ConVarT

ClinVar Data

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Variation ID	Allele ID	RS Number	Variant Type	Record	Alteration	Clinicial Sig.	Last Update	Phenotypes	Cytogenetic	Review Status	RCV Acc.N.

gnomAD

Coding Sequence Variant

Frameshift Variant

Inframe Deletion

Inframe Insertion

Missense Variant

Splice Acceptor Variant

Splice Region Variant

Stop Gained

Stop Retained Variant

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags	Filter
12-53342954-CAGCATG-C	ENST00000388835	p.MetSer1_?2	Coding Sequence Variant	0	0	0	rs754487715
12-53342954-CAGCATG-C	ENST00000388837	p.MetSer1_?2	Splice Acceptor Variant	0	0	0	rs754487715	lc_lof
12-53342962-G-C	ENST00000388835	p.Ser2Thr	Missense Variant	1	31412	0.000032	rs369198778
12-53342962-G-C	ENST00000388837	p.Ser2Thr	Missense Variant	1	31412	0.000032	rs369198778
12-53342963-C-T	ENST00000388835	p.Ser2Ser	Synonymous Variant	0	0	0	rs141170056
12-53342963-C-T	ENST00000388837	p.Ser2Ser	Synonymous Variant	0	0	0	rs141170056
12-53342965-T-G	ENST00000388835	p.Phe3Cys	Missense Variant	0	0	0	rs756991398
12-53342965-T-G	ENST00000388837	p.Phe3Cys	Missense Variant	0	0	0	rs756991398
12-53342967-A-G	ENST00000388835	p.Thr4Ala	Missense Variant	0	0	0	rs1241148678
12-53342967-A-G	ENST00000388837	p.Thr4Ala	Missense Variant	0	0	0	rs1241148678
12-53342968-C-G	ENST00000388835	p.Thr4Ser	Missense Variant	0	0	0	rs76301931
12-53342968-C-G	ENST00000388837	p.Thr4Ser	Missense Variant	0	0	0	rs76301931
12-53342968-C-T	ENST00000388835	p.Thr4Ile	Missense Variant	1287	11354	0.113352	rs76301931		InbreedingCoeff,RF
12-53342968-C-T	ENST00000388837	p.Thr4Ile	Missense Variant	1287	11354	0.113352	rs76301931		InbreedingCoeff,RF
12-53342969-C-A	ENST00000388835	p.Thr4Thr	Synonymous Variant	0	0	0	rs769641289
12-53342969-C-A	ENST00000388837	p.Thr4Thr	Synonymous Variant	0	0	0	rs769641289
12-53342972-T-TCGCTCCACCTTCTCCACC	ENST00000388835	p.Arg6_Thr11dup	Inframe Insertion	0	0	0	rs780863496
12-53342972-T-TCGCTCCACCTTCTCCACC	ENST00000388837	p.Arg6_Thr11dup	Inframe Insertion	0	0	0	rs780863496
12-53342973-C-T	ENST00000388835	p.Arg6Cys	Missense Variant	0	0	0	rs1270182586
12-53342973-C-T	ENST00000388837	p.Arg6Cys	Missense Variant	0	0	0	rs1270182586

Showing 1 to 20 of 884 entries

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Post-translational Modifications (PTMs)

Acetylation

Methylation

O-GlcNAc

Phosphorylation

Sumoylation

Ubiquitination

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
KRT18	P05783	Phosphorylation	10	S10-p	FtTRstFstNyRsLG	48.06	3179070
KRT18	P05783	Phosphorylation	100	S100-p	syLDrVRsLETENRR	48.06	14568097
KRT18	P05783	Phosphorylation	11	T11-p	tTRstFstNyRsLGs	48.06	14702912
KRT18	P05783	Phosphorylation	110	S110-p	TENRRLEskIREHLE	48.06	11073343
KRT18	P05783	Acetylation	111	K111-ac	ENRRLEskIREHLEk	48.06	11320102
KRT18	P05783	Ubiquitination	118	K118-ub	kIREHLEkKGPQVRD	48.06	12112906
KRT18	P05783	Methylation	118	K118-m1	kIREHLEkKGPQVRD	48.06	58126010
KRT18	P05783	Phosphorylation	127	S127-p	GPQVRDWsHyFkIIE	48.06	18011051
KRT18	P05783	Phosphorylation	129	Y129-p	QVRDWsHyFkIIEDL	48.06	2424911
KRT18	P05783	Phosphorylation	13	Y13-p	RstFstNyRsLGsVQ	48.06	461950
KRT18	P05783	Ubiquitination	131	K131-ub	RDWsHyFkIIEDLRA	48.06	15391125
KRT18	P05783	Acetylation	131	K131-ac	RDWsHyFkIIEDLRA	48.06	11320094
KRT18	P05783	Methylation	131	K131-m1	RDWsHyFkIIEDLRA	48.06	57985830
KRT18	P05783	Phosphorylation	15	S15-p	tFstNyRsLGsVQAP	48.06	3179046
KRT18	P05783	Ubiquitination	167	K167-ub	AADDFRVkyETELAM	48.06	15492053
KRT18	P05783	Acetylation	167	K167-ac	AADDFRVkyETELAM	48.06	11320098
KRT18	P05783	Methylation	167	K167-m1	AADDFRVkyETELAM	48.06	57985834
KRT18	P05783	Sumoylation	167	K167-sm	AADDFRVkyETELAM	48.06	55432900
KRT18	P05783	Phosphorylation	168	Y168-p	ADDFRVkyETELAMR	48.06	3554096
KRT18	P05783	Phosphorylation	177	S177-p	TELAMRQsVENDIHG	48.06	18011054

Showing 1 to 20 of 114 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - Frameshift

Deletion - In Frame

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

Unknown

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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
KRT18	ENST00000388835	PCSI_0024_Pa_P	pancreas	carcinoma	41458402	c.*59A>G	p.?	Unknown	NEUTRAL	.16771	Confirmed somatic variant	PMID: N/A	primary	0
KRT18	ENST00000388835	TCGA-DA-A1I5-06	skin	malignant_melanoma	41459185	c.782G>T	p.R261L	Substitution - Missense	NEUTRAL	.14127	Confirmed somatic variant	PMID: N/A	NS	261
KRT18	ENST00000388835	2834136	skin	malignant_melanoma	41459174	c.1246G>T	p.G416C	Substitution - Missense	PATHOGENIC	.92986	Variant of unknown origin	PMID: 28296713	primary	416
KRT18	ENST00000388835	CHG-12-13407T	liver	other	41458367	c.*56T>G	p.?	Unknown	NEUTRAL	.00825	Confirmed somatic variant	PMID: N/A	primary	0
KRT18	ENST00000388835	CHG-12-13407T	liver	other	41458361	c.*20C>A	p.?	Unknown	NEUTRAL	.18263	Confirmed somatic variant	PMID: N/A	primary	0
KRT18	ENST00000388835	TCGA-GC-A3RB-01	urinary_tract	carcinoma	41460186	c.220A>T	p.M74L	Substitution - Missense	NEUTRAL	.20859	Confirmed somatic variant	PMID: N/A	primary	74
KRT18	ENST00000388835	TCGA-D3-A5GO-06	skin	malignant_melanoma	41458815	c.791G>A	p.R264Q	Substitution - Missense	NEUTRAL	.3815	Confirmed somatic variant	PMID: N/A	NS	264
KRT18	ENST00000388835	W34T	thyroid	carcinoma	41458206	c.109G>A	p.A37T	Substitution - Missense	PATHOGENIC	.97858	Confirmed somatic variant	PMID: N/A	primary	37
KRT18	ENST00000388835	TCGA-D3-A5GO-06	skin	malignant_melanoma	41458819	c.924C>T	p.I308=	Substitution - coding silent	NEUTRAL	.21372	Confirmed somatic variant	PMID: N/A	NS	308
KRT18	ENST00000388835	T2992	large_intestine	carcinoma	41458867	c.744C>G	p.I248M	Substitution - Missense	PATHOGENIC	.91626	Confirmed somatic variant	PMID: 27149842	NS	248
KRT18	ENST00000388835	2293776	adrenal_gland	adrenal_cortical_carcinoma	41458945	c.857C>A	p.S286Y	Substitution - Missense	NEUTRAL	.37986	Confirmed somatic variant	PMID: 24747642	NS	286
KRT18	ENST00000388835	CHG-12-01579T	liver	other	41458353	c.1141C>T	p.R381C	Substitution - Missense	PATHOGENIC	.89847	Confirmed somatic variant	PMID: N/A	primary	381
KRT18	ENST00000388835	CHG-12-01579T	liver	other	41458348	c.16C>T	p.R6C	Substitution - Missense	NEUTRAL	.42637	Confirmed somatic variant	PMID: N/A	primary	6
KRT18	ENST00000388835	CHG-12-01579T	liver	other	41458172	c.557G>A	p.R186H	Substitution - Missense	PATHOGENIC	.93183	Confirmed somatic variant	PMID: N/A	primary	186
KRT18	ENST00000388835	CAL33	upper_aerodigestive_tract	carcinoma	41458430	c.94G>T	p.A32S	Substitution - Missense	PATHOGENIC	.92911	Reported in another cancer sample as somatic	PMID: 25275298	NS	32
KRT18	ENST00000388835	CAL33	upper_aerodigestive_tract	carcinoma	41458434	c.102C>A	p.S34R	Substitution - Missense	PATHOGENIC	.96609	Reported in another cancer sample as somatic	PMID: 25275298	NS	34
KRT18	ENST00000388835	CAL33	upper_aerodigestive_tract	carcinoma	41458051	c.76G>A	p.A26T	Substitution - Missense	NEUTRAL	.38224	Variant of unknown origin	PMID: 25275298	NS	26
KRT18	ENST00000388835	CAL33	upper_aerodigestive_tract	carcinoma	41458439	c.252G>A	p.M84I	Substitution - Missense	PATHOGENIC	.98741	Reported in another cancer sample as somatic	PMID: 25275298	NS	84
KRT18	ENST00000388835	TCGA-YG-AA3O-06	skin	malignant_melanoma	41458733	c.*8G>A	p.?	Unknown	NEUTRAL	.06659	Confirmed somatic variant	PMID: N/A	NS	0
KRT18	ENST00000388835	CAL33	upper_aerodigestive_tract	carcinoma	41458598	c.201A>G	p.I67M	Substitution - Missense	NEUTRAL	.02085	Variant of unknown origin	PMID: 25275298	NS	67

Showing 1 to 20 of 474 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
PF00038	Filament	Intermediate filament protein	79-391			Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Malignant neoplasm of breast	Neoplasms ; Skin and Connective Tissue Diseases ;	0.557	0.552
Hepatitis, Toxic	Digestive System Diseases ; Chemically-Induced Disorders ;	0.557	0.552
Liver Cirrhosis	Digestive System Diseases ;	0.557	0.552
Liver Cirrhosis, Experimental	Digestive System Diseases ;	0.557	0.552
Liver neoplasms	Neoplasms ; Digestive System Diseases ;	0.557	0.552
Necrosis	Pathological Conditions, Signs and Symptoms ;	0.557	0.552
Liver Failure, Acute	Digestive System Diseases ;	0.557	0.552
Fibrosis, Liver	Digestive System Diseases ;	0.557	0.552
Cirrhosis, Cryptogenic	Digestive System Diseases ;	0.557	0.552
Indian childhood cirrhosis	Digestive System Diseases ; Respiratory Tract Diseases ;	0.557	0.552
Malignant neoplasm of liver	Neoplasms ; Digestive System Diseases ;	0.557	0.552
Breast Carcinoma	Neoplasms ; Skin and Connective Tissue Diseases ;	0.557	0.552
Drug-Induced Liver Disease	Digestive System Diseases ; Chemically-Induced Disorders ;	0.557	0.552
Mammary Neoplasms, Human	Neoplasms ; Skin and Connective Tissue Diseases ;	0.557	0.552
Hepatitis, Drug-Induced	Digestive System Diseases ; Chemically-Induced Disorders ;	0.557	0.552
Mammary Neoplasms	Neoplasms ; Skin and Connective Tissue Diseases ;	0.557	0.552
CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO (finding)	N/A	0.557	0.552
COPPER TOXICOSIS, IDIOPATHIC	Digestive System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ;	0.557	0.552
Cirrhosis, Familial	Digestive System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.557	0.552
Copper-Overload Cirrhosis	Digestive System Diseases ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ;	0.557	0.552
Endemic Tyrolean Infantile Cirrhosis	Pathological Conditions, Signs and Symptoms ;	0.557	0.552
Drug-Induced Acute Liver Injury	Digestive System Diseases ; Chemically-Induced Disorders ;	0.557	0.552
Chemical and Drug Induced Liver Injury	Digestive System Diseases ; Chemically-Induced Disorders ;	0.557	0.552
Chemically-Induced Liver Toxicity	Digestive System Diseases ; Chemically-Induced Disorders ;	0.557	0.552
NO RESULT FOUND

Description:	keratin 18a, tandem duplicate 1 [Source:ZFIN;Acc:ZDB-GENE-030411-6]
Synonyms:	wu:fb36b04, krt18, cb83, u:fa13f02, DreK18, sb:cb83, dapk1
Other ID(s):	ENSDARG00000109528, ENSDARG00000018404, ZDB-GENE-030411-6
Protein Accession Numbers:	NP_848524
Statistics:	ClinVar(40) gnomAD(884) COSMIC(474) PTM(114)

Classification of Clinicial Significance of ClinVar Data