ConVarT

ClinVar Data

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Variation ID	Allele ID	RS Number	Variant Type	Record	Alteration	Clinicial Sig.	Last Update	Phenotypes	Cytogenetic
599021	590120	rs369473842	single nucleotide variant	NM_000610.4(CD44):c.137G>A (p.Arg46Gln)	p.Arg46Gln	Benign	INDIAN BLOOD GROUP SYSTEM POLYMORPHISM	no assertion criteria provided	RCV000019669
708949	724415	rs140510483	single nucleotide variant	NM_000610.4(CD44):c.1369A>G (p.Ile457Val)	p.Ile414Val	Benign	not provided	criteria provided, single submitter	RCV000880287
709995	724414	rs35498342	single nucleotide variant	NM_000610.4(CD44):c.1245A>C (p.Thr415=)	p.Thr372=	Benign	not provided	criteria provided, single submitter	RCV000881492
717300	724416	rs61752932	single nucleotide variant	NM_000610.4(CD44):c.2018G>A (p.Arg673Gln)	p.Arg630Gln	Likely benign	not provided	criteria provided, single submitter	RCV000890067
725253	737955	rs149237473	single nucleotide variant	NM_000610.4(CD44):c.1386A>G (p.Gly462=)	p.Gly419=	Benign	not provided	criteria provided, single submitter	RCV000899286
731701	737954	rs759698237	single nucleotide variant	NM_000610.4(CD44):c.639C>T (p.Thr213=)	p.Thr213=	Likely benign	not provided	criteria provided, single submitter	RCV000906696
739568	752658	rs140626716	single nucleotide variant	NM_000610.4(CD44):c.1622C>T (p.Thr541Ile)	p.Thr498Ile	Likely benign	not provided	criteria provided, single submitter	RCV000915543
745899	752657	rs111287251	single nucleotide variant	NM_000610.4(CD44):c.489G>A (p.Thr163=)	p.Thr163=	Benign	not provided	criteria provided, single submitter	RCV000922475
748251	752656	rs751409755	single nucleotide variant	NM_000610.4(CD44):c.345C>T (p.Asp115=)	p.Asp115=	Likely benign	not provided	criteria provided, single submitter	RCV000925032
750297	752659	rs760882696	single nucleotide variant	NM_000610.4(CD44):c.2187G>A (p.Glu729=)	p.Glu686=	Likely benign	not provided	criteria provided, single submitter	RCV000927253
756343	768432	rs543786312	single nucleotide variant	NM_000610.4(CD44):c.147C>T (p.Ala49=)	p.Ala49=	Likely benign	not provided	criteria provided, single submitter	RCV000933829
756739	768433	rs1244729864	single nucleotide variant	NM_000610.4(CD44):c.438T>G (p.Thr146=)	p.Thr146=	Likely benign	not provided	criteria provided, single submitter	RCV000934264
776602	701742	rs114247966	single nucleotide variant	NM_000610.4(CD44):c.1388G>A (p.Arg463Gln)	p.Arg420Gln	Benign	not provided	criteria provided, single submitter	RCV000956931
778041	701741	rs11607491	single nucleotide variant	NM_000610.4(CD44):c.1178C>T (p.Thr393Met)	p.Thr350Met	Benign	not provided	criteria provided, single submitter	RCV000958621
782773	712808	rs149768341	single nucleotide variant	NM_000610.4(CD44):c.1683C>T (p.Thr561=)	p.Thr518=	Benign	not provided	criteria provided, single submitter	RCV000964206

Showing 1 to 15 of 15 entries

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gnomAD

Frameshift Variant

Inframe Deletion

Missense Variant

Splice Region Variant

Stop Gained

Stop Lost

Stop Retained Variant

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
11-35160854-G-A	ENST00000415148	p.Asp2Asn	Missense Variant	0	0	0	rs776274622
11-35160856-C-A	ENST00000415148	p.Asp2Glu	Missense Variant	0	0	0	rs761731619
11-35160859-G-C	ENST00000415148	p.Lys3Asn	Missense Variant	0	0	0	rs922890139
11-35160865-G-A	ENST00000415148	p.Trp5Ter	Stop Gained	0	0	0	rs1363908620
11-35160867-G-T	ENST00000415148	p.Trp6Leu	Missense Variant	0	0	0	rs769685554
11-35160868-G-T	ENST00000415148	p.Trp6Cys	Missense Variant	0	0	0	rs868458611
11-35160872-G-A	ENST00000415148	p.Ala8Thr	Missense Variant	0	0	0	rs1361444220
11-35160876-C-T	ENST00000415148	p.Ala9Val	Missense Variant	0	0	0	rs773178545
11-35160877-C-T	ENST00000415148	p.Ala9Ala	Synonymous Variant	0	0	0	rs1315459580
11-35160878-TG-T	ENST00000415148	p.Gly11AspfsTer7	Frameshift Variant	0	0	0	rs1322648460
11-35160883-A-G	ENST00000415148	p.Gly11Gly	Synonymous Variant	0	0	0	rs929074392
11-35160884-C-T	ENST00000415148	p.Leu12Phe	Missense Variant	0	0	0	rs756708345
11-35160890-C-T	ENST00000415148	p.Leu14Phe	Missense Variant	0	0	0	rs1489711013
11-35160892-C-G	ENST00000415148	p.Leu14Leu	Synonymous Variant	0	0	0	rs529030568
11-35160893-G-A	ENST00000415148	p.Val15Met	Missense Variant	0	0	0	rs1263189545
11-35160895-G-C	ENST00000415148	p.Val15Val	Synonymous Variant	0	0	0	rs532926469
11-35160896-C-A	ENST00000415148	p.Pro16Thr	Missense Variant	0	0	0	rs1184657730
11-35160897-C-T	ENST00000415148	p.Pro16Leu	Missense Variant	0	0	0	rs371626843
11-35160898-G-T	ENST00000415148	p.Pro16Pro	Synonymous Variant	0	0	0	rs764438441
11-35160901-G-C	ENST00000415148	p.Leu17Leu	Synonymous Variant	1	31366	0.000032	rs962265363

Showing 1 to 20 of 574 entries

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Post-translational Modifications (PTMs)

O-GalNAc

Phosphorylation

Ubiquitination

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
CD44	P16070	Ubiquitination	158	K158-ub	DGTRYVQkGEYRtNP	81.54	610815636
CD44	P16070	Phosphorylation	163	T163-p	VQkGEYRtNPEDIYP	81.54	23091966
CD44	P16070	Phosphorylation	171	S171-p	NPEDIYPsNPtDDDV	81.54	23091963
CD44	P16070	O-GalNAc	174	T174-ga	DIYPsNPtDDDVsSG	81.54	27915417
CD44	P16070	Phosphorylation	179	S179-p	NPtDDDVsSGsssER	81.54	40721380
CD44	P16070	Phosphorylation	182	S182-p	DDDVsSGsssERSST	81.54	40721384
CD44	P16070	Phosphorylation	183	S183-p	DDVsSGsssERSSTS	81.54	27908961
CD44	P16070	Phosphorylation	184	S184-p	DVsSGsssERSSTSG	81.54	54413553
CD44	P16070	O-GalNAc	197	T197-ga	SGGYIFYtFstVHPI	81.54	27916519
CD44	P16070	O-GalNAc	199	S199-ga	GYIFYtFstVHPIPD	81.54	27916521
CD44	P16070	O-GalNAc	200	T200-ga	YIFYtFstVHPIPDE	81.54	27916523
CD44	P16070	Phosphorylation	222	T222-p	STDRIPAtTLMSTSA	81.54	22833036
CD44	P16070	Phosphorylation	311	T311-p	ISSTISTtPRAFDHt	81.54	55370878
CD44	P16070	O-GalNAc	318	T318-ga	tPRAFDHtKQNQDWt	81.54	27912218
CD44	P16070	O-GalNAc	325	T325-ga	tKQNQDWtQWNPsHs	81.54	27914315
CD44	P16070	O-GalNAc	330	S330-ga	DWtQWNPsHsNPEVL	81.54	27915621
CD44	P16070	O-GalNAc	332	S332-ga	tQWNPsHsNPEVLLQ	81.54	27915623
CD44	P16070	O-GalNAc	412	Y412-ga	GNRWHEGyRQTPKED	81.54	27916600
CD44	P16070	Phosphorylation	412	Y412-p	GNRWHEGyRQTPKED	81.54	477595
CD44	P16070	Phosphorylation	420	S420-p	RQTPKEDsHsttGtA	81.54	34368100

Showing 1 to 20 of 67 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - Frameshift

Insertion - Frameshift

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

Unknown

Show entries

Gene Name	Transcript ID	Sample name	Primary Site	Primary Histology	Mutation ID	Mutation CDS	Mutation Aa	Mutation Desc.	FATHMM Prediction	FATHMM Score	Mutation Somatic Status	PUBMED PMID	Tumor Origin	Position
CD44_ENST00000415148	ENST00000415148	J32_T	lung	carcinoma	49099336	c.668-1234T>A	p.?	Unknown	NEUTRAL	.01185	Confirmed somatic variant	PMID: N/A	NS	0
CD44_ENST00000415148	ENST00000415148	J32_T	lung	carcinoma	49100329	c.67+7905A>G	p.?	Unknown	NEUTRAL	.14273	Confirmed somatic variant	PMID: N/A	NS	0
CD44_ENST00000415148	ENST00000415148	TCGA-QK-A6VB-01	upper_aerodigestive_tract	carcinoma	49101266	c.668-1329G>A	p.?	Unknown	NEUTRAL	.27132	Confirmed somatic variant	PMID: N/A	primary	0
CD44_ENST00000415148	ENST00000415148	PD11384a	breast	carcinoma	49100642	c.68-2027C>T	p.?	Unknown	NEUTRAL	.04249	Confirmed somatic variant	PMID: N/A	NS	0
CD44_ENST00000415148	ENST00000415148	C20CA	large_intestine	carcinoma	49099286	c.1329T>A	p.N443K	Substitution - Missense		.67783	Confirmed somatic variant	PMID: 29967250	primary	443
CD44_ENST00000415148	ENST00000415148	TCGA-VQ-A91U-01	stomach	carcinoma	49100556	c.948G>C	p.W316C	Substitution - Missense	NEUTRAL	.13265	Confirmed somatic variant	PMID: N/A	primary	316
CD44_ENST00000415148	ENST00000415148	TCGA-FB-A545-01	pancreas	carcinoma	49098290	c.668-1309T>G	p.?	Unknown	PATHOGENIC	.86509	Confirmed somatic variant	PMID: N/A	NS	0
CD44_ENST00000415148	ENST00000415148	tumor_4147360	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	49098998	c.233+286C>T	p.?	Unknown	PATHOGENIC	.79159	Confirmed somatic variant	PMID: N/A	primary	0
CD44_ENST00000415148	ENST00000415148	5-VS030-T1	skin	carcinoma	49101329	c.969C>T	p.P323=	Substitution - coding silent	NEUTRAL	.00883	Confirmed somatic variant	PMID: 26950094	NS	323
CD44_ENST00000415148	ENST00000415148	tumor_4166151	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	49098609	c.67+8111C>A	p.?	Unknown	NEUTRAL	.14255	Confirmed somatic variant	PMID: N/A	primary	0
CD44_ENST00000415148	ENST00000415148	T3024	large_intestine	carcinoma	49097735	c.1713del	p.S572Pfs*28	Deletion - Frameshift			Confirmed somatic variant	PMID: 25344691	NS	572
CD44_ENST00000415148	ENST00000415148	2834130	skin	malignant_melanoma	49097325	c.1850T>C	p.L617S	Substitution - Missense	PATHOGENIC	.89046	Variant of unknown origin	PMID: 28296713	primary	617
CD44_ENST00000415148	ENST00000415148	T_CCA_SG_15	biliary_tract	carcinoma	49097172	c.68-13311del	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
CD44_ENST00000415148	ENST00000415148	LP6008141-DNA_H01	oesophagus	carcinoma	49100821	c.67+5612C>G	p.?	Unknown	NEUTRAL	.01949	Confirmed somatic variant	PMID: N/A	primary	0
CD44_ENST00000415148	ENST00000415148	AOCS-135-3-1	ovary	carcinoma	49098673	c.68-5186A>T	p.?	Unknown	NEUTRAL	.18667	Confirmed somatic variant	PMID: N/A	NS	0
CD44_ENST00000415148	ENST00000415148	RK079_C01	liver	carcinoma	49101317	c.1477+478T>C	p.?	Unknown	NEUTRAL	.03115	Variant of unknown origin	PMID: N/A	primary	0
CD44_ENST00000415148	ENST00000415148	60T	liver	other	49099680	c.67+9303G>A	p.?	Unknown	NEUTRAL	.01931	Confirmed somatic variant	PMID: N/A	primary	0
CD44_ENST00000415148	ENST00000415148	2748734	biliary_tract	carcinoma	49101351	c.1311G>A	p.T437=	Substitution - coding silent	NEUTRAL	.02514	Confirmed somatic variant	PMID: 29360550	NS	437
CD44_ENST00000415148	ENST00000415148	RK095_C01	liver	carcinoma	49100225	c.668-667T>C	p.?	Unknown	NEUTRAL	.06609	Confirmed somatic variant	PMID: N/A	NS	0
CD44_ENST00000415148	ENST00000415148	TCGA-22-1012-01	lung	carcinoma	49099227	c.1244C>G	p.S415*	Substitution - Nonsense	PATHOGENIC	.87948	Variant of unknown origin	PMID: N/A	primary	415

Showing 1 to 20 of 322 entries

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dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Clan	Clan Name	Organism
NO RESULT FOUND
PF00193	Xlink	Extracellular link domain	32-119	CL0056	C_Lectin	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Hereditary Nonpolyposis Colorectal Neoplasms	Neoplasms ; Digestive System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ;	0.389	0.862
Contact Dermatitis	Skin and Connective Tissue Diseases ;	0.389	0.862
IGA Glomerulonephritis	Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Immune System Diseases ;	0.389	0.862
Kidney Failure, Acute	Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.389	0.862
Leukemia, Myelocytic, Acute	Neoplasms ;	0.389	0.862
Acute Promyelocytic Leukemia	Neoplasms ;	0.389	0.862
Malignant neoplasm of stomach	Neoplasms ; Digestive System Diseases ;	0.389	0.862
Mammary Neoplasms, Experimental	Neoplasms ;	0.389	0.862
Acute Myeloid Leukemia, M1	Neoplasms ;	0.389	0.862
Neoplasm Metastasis	Neoplasms ; Pathological Conditions, Signs and Symptoms ;	0.389	0.862
Nerve Degeneration	Pathological Conditions, Signs and Symptoms ;	0.389	0.862
Pancreatic Neoplasm	Neoplasms ; Digestive System Diseases ; Endocrine System Diseases ;	0.389	0.862
Adenomatous Polyposis Coli	Neoplasms ; Digestive System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.389	0.862
Dermatologic disorders	Skin and Connective Tissue Diseases ;	0.389	0.862
Stomach Neoplasms	Neoplasms ; Digestive System Diseases ;	0.389	0.862
Vitiligo	Skin and Connective Tissue Diseases ;	0.389	0.862
Contact hypersensitivity	Skin and Connective Tissue Diseases ;	0.389	0.862
Arsenic Poisoning, Inorganic	Nervous System Diseases ; Chemically-Induced Disorders ;	0.389	0.862
Nervous System, Organic Arsenic Poisoning	Nervous System Diseases ; Chemically-Induced Disorders ;	0.389	0.862
Arsenic Poisoning	Nervous System Diseases ; Chemically-Induced Disorders ;	0.389	0.862
Malignant neoplasm of pancreas	Neoplasms ; Digestive System Diseases ; Endocrine System Diseases ;	0.389	0.862
Arsenic Encephalopathy	Nervous System Diseases ; Chemically-Induced Disorders ;	0.389	0.862
Arsenic Induced Polyneuropathy	Nervous System Diseases ; Chemically-Induced Disorders ;	0.389	0.862
Hereditary Nonpolyposis Colorectal Cancer	Neoplasms ; Digestive System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ;	0.389	0.862
Acute Kidney Insufficiency	Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.389	0.862
Hereditary Diffuse Gastric Cancer	Neoplasms ; Digestive System Diseases ;	0.389	0.862
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.389	0.862
Acute kidney injury	Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.389	0.862
Polyposis, Adenomatous Intestinal	Neoplasms ; Digestive System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.389	0.862
Familial Intestinal Polyposis	Neoplasms ; Digestive System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.389	0.862
NO RESULT FOUND

Description:	CD44 antigen [Source:MGI Symbol;Acc:MGI:88338]
Synonyms:	HERMES, AU023126, y-24, AW146109, Pgp-1, AW121933
Other ID(s):	ENSMUSG00000005087, MGI:88338
Protein Accession Numbers:	XP_006498708, NP_001171257, XP_006498710, NP_001034239, NP_033981, XP_006498712, NP_001171256, XP_006498709, NP_001171258, XP_006498711, NP_001034240
Statistics:	ClinVar(15) gnomAD(574) COSMIC(322) PTM(67)

Classification of Clinicial Significance of ClinVar Data