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

Frameshift Variant

Inframe Deletion

Inframe Insertion

Missense Variant

Protein Altering Variant

Splice Acceptor Variant

Splice Region Variant

Start Lost

Stop Gained

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
7-75932030-A-G	ENST00000248553	p.Met1?	Start Lost	0	0	0	rs200190722
7-75932031-T-A	ENST00000248553	p.Met1?	Start Lost	0	0	0	rs1429595044
7-75932032-G-A	ENST00000248553	p.Met1?	Start Lost	1	31384	0.000032	rs1173242313
7-75932033-A-C	ENST00000248553	p.Thr2Pro	Missense Variant	0	0	0	rs781237351
7-75932035-C-T	ENST00000248553	p.Thr2Thr	Synonymous Variant	0	0	0	rs1461199871
7-75932036-G-A	ENST00000248553	p.Glu3Lys	Missense Variant	0	0	0	rs748003351
7-75932037-A-G	ENST00000248553	p.Glu3Gly	Missense Variant	0	0	0	rs769671361
7-75932038-G-A	ENST00000248553	p.Glu3Glu	Synonymous Variant	114	31386	0.003632	rs77586767
7-75932038-G-C	ENST00000248553	p.Glu3Asp	Missense Variant	0	0	0	rs77586767
7-75932040-G-A	ENST00000248553	p.Arg4His	Missense Variant	0	0	0	rs748730374
7-75932042-C-T	ENST00000248553	p.Arg5Cys	Missense Variant	1	31388	0.000032	rs1223455877
7-75932045-G-A	ENST00000248553	p.Val6Ile	Missense Variant	4	31378	0.000127	rs1049324
7-75932045-G-T	ENST00000248553	p.Val6Phe	Missense Variant	0	0	0	rs1049324
7-75932046-T-C	ENST00000248553	p.Val6Ala	Missense Variant	0	0	0	rs773864816
7-75932050-C-T	ENST00000248553	p.Pro7Pro	Synonymous Variant	0	0	0	rs759998200
7-75932053-C-T	ENST00000248553	p.Phe8Phe	Synonymous Variant	3	31398	0.000096	rs201769668
7-75932056-G-T	ENST00000248553	p.Ser9Ser	Synonymous Variant	0	0	0	rs1232413726
7-75932057-C-G	ENST00000248553	p.Leu10Val	Missense Variant	0	0	0	rs1273609530
7-75932057-C-T	ENST00000248553	p.Leu10Phe	Missense Variant	0	0	0	rs1273609530
7-75932058-T-A	ENST00000248553	p.Leu10His	Missense Variant	0	0	0	rs772216758

Showing 1 to 20 of 316 entries

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Post-translational Modifications (PTMs)

Acetylation

Methylation

Phosphorylation

Sumoylation

Ubiquitination

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
HSPB1	P04792	Ubiquitination	112	K112-ub	APDELTVktkDGVVE	22.78	10839133
HSPB1	P04792	Phosphorylation	113	T113-p	PDELTVktkDGVVEI	22.78	2631601
HSPB1	P04792	Ubiquitination	114	K114-ub	DELTVktkDGVVEIt	22.78	10839141
HSPB1	P04792	Sumoylation	114	K114-sm	DELTVktkDGVVEIt	22.78	55432559
HSPB1	P04792	Methylation	12	R12-m1	rVPFsLLrGPsWDPF	22.78	15380009
HSPB1	P04792	Phosphorylation	121	T121-p	kDGVVEItGkHEERQ	22.78	18010641
HSPB1	P04792	Ubiquitination	123	K123-ub	GVVEItGkHEERQDE	22.78	12093601
HSPB1	P04792	Acetylation	123	K123-ac	GVVEItGkHEERQDE	22.78	461571
HSPB1	P04792	Phosphorylation	133	Y133-p	ERQDEHGyIsRCFtR	22.78	473641
HSPB1	P04792	Phosphorylation	135	S135-p	QDEHGyIsRCFtRky	22.78	15426505
HSPB1	P04792	Phosphorylation	139	T139-p	GyIsRCFtRkytLPP	22.78	5450113
HSPB1	P04792	Ubiquitination	141	K141-ub	IsRCFtRkytLPPGV	22.78	27193829
HSPB1	P04792	Phosphorylation	142	Y142-p	sRCFtRkytLPPGVD	22.78	23114264
HSPB1	P04792	Phosphorylation	143	T143-p	RCFtRkytLPPGVDP	22.78	471871
HSPB1	P04792	Phosphorylation	15	S15-p	FsLLrGPsWDPFRDW	22.78	448401
HSPB1	P04792	Phosphorylation	162	T162-p	SSLSPEGtLtVEAPM	22.78	27908618
HSPB1	P04792	Phosphorylation	164	T164-p	LSPEGtLtVEAPMPk	22.78	27908621
HSPB1	P04792	Ubiquitination	171	K171-ub	tVEAPMPkLAtQsNE	22.78	964519690
HSPB1	P04792	Phosphorylation	174	T174-p	APMPkLAtQsNEItI	22.78	3850464
HSPB1	P04792	Phosphorylation	176	S176-p	MPkLAtQsNEItIPV	22.78	26352800

Showing 1 to 20 of 46 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - Frameshift

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
HSPB1	ENST00000248553	TCGA-EE-A3AG-06	skin	malignant_melanoma	22404982	c.42C>A	p.P14=	Substitution - coding silent	PATHOGENIC	.85634	Confirmed somatic variant	PMID: N/A	NS	14
HSPB1	ENST00000248553	2857126	urinary_tract	carcinoma	22405180	c.451A>G	p.T151A	Substitution - Missense		.5734	Confirmed somatic variant	PMID: 25096233	NS	151
HSPB1	ENST00000248553	TCGA-DG-A2KK-01	cervix	carcinoma	22404896	c.489G>A	p.L163=	Substitution - coding silent	PATHOGENIC	.70847	Confirmed somatic variant	PMID: N/A	primary	163
HSPB1	ENST00000248553	TCGA-DG-A2KK-01	cervix	carcinoma	22404888	c.478G>A	p.E160K	Substitution - Missense	PATHOGENIC	.95806	Confirmed somatic variant	PMID: N/A	primary	160
HSPB1	ENST00000248553	2014_Lung_sq_18_T	lung	carcinoma	22404788	c.365-135A>C	p.?	Unknown	NEUTRAL	.04678	Confirmed somatic variant	PMID: N/A	primary	0
HSPB1	ENST00000248553	CX-1	large_intestine	carcinoma	22404707	c.277G>A	p.D93N	Substitution - Missense	PATHOGENIC	.98185	Variant of unknown origin	PMID: 24755471	NS	93
HSPB1	ENST00000248553	RK135_C01	liver	carcinoma	22405114	c.*29G>T	p.?	Unknown	NEUTRAL	.12646	Confirmed somatic variant	PMID: N/A	NS	0
HSPB1	ENST00000248553	ccRCC-56	kidney	carcinoma	22405005	c.364+12T>C	p.?	Unknown	NEUTRAL	.00794	Confirmed somatic variant	PMID: 23797736	NS	0
HSPB1	ENST00000248553	HT29	large_intestine	carcinoma	22404707	c.277G>A	p.D93N	Substitution - Missense	PATHOGENIC	.98185	Variant of unknown origin	PMID: 24755471	NS	93
HSPB1	ENST00000248553	T3535	large_intestine	carcinoma	22404563	c.128C>T	p.S43L	Substitution - Missense	NEUTRAL	.33532	Confirmed somatic variant	PMID: 25344691	NS	43
HSPB1	ENST00000248553	195	stomach	carcinoma	22405261	c.490A>G	p.T164A	Substitution - Missense	PATHOGENIC	.8215	Confirmed somatic variant	PMID: N/A	primary	164
HSPB1	ENST00000248553	TCGA-UU-A93S-01	breast	carcinoma	22404933	c.510C>G	p.P170=	Substitution - coding silent	PATHOGENIC	.87236	Confirmed somatic variant	PMID: N/A	primary	170
HSPB1	ENST00000248553	TCGA-04-1516-01	ovary	carcinoma	22404531	c.29T>A	p.L10H	Substitution - Missense	PATHOGENIC	.96108	Variant of unknown origin	PMID: N/A	primary	10
HSPB1	ENST00000248553	PD18754a	breast	carcinoma	22404733	c.261G>A	p.E87=	Substitution - coding silent	PATHOGENIC	.97017	Confirmed somatic variant	PMID: N/A	NS	87
HSPB1	ENST00000248553	B16	urinary_tract	carcinoma	22405244	c.347G>T	p.G116V	Substitution - Missense	PATHOGENIC	.9708	Confirmed somatic variant	PMID: 24121792	NS	116
HSPB1	ENST00000248553	2492703	skin	malignant_melanoma	22404658	c.281G>A	p.R94H	Substitution - Missense	PATHOGENIC	.91402	Confirmed somatic variant	PMID: 26286987	metastasis	94
HSPB1	ENST00000248553	GCTK_16444_T	stomach	carcinoma	22404944	c.438del	p.G147Vfs*17	Deletion - Frameshift			Confirmed somatic variant	PMID: N/A	primary	147
HSPB1	ENST00000248553	CHG-13-08463T	liver	other	22404914	c.428+44T>G	p.?	Unknown	NEUTRAL	.00545	Confirmed somatic variant	PMID: N/A	primary	0
HSPB1	ENST00000248553	SDC11	salivary_gland	carcinoma	22404552	c.461C>T	p.S154F	Substitution - Missense	NEUTRAL	.18168	Confirmed somatic variant	PMID: 27103403	recurrent	154
HSPB1	ENST00000248553	TCGA-BQ-7044-01	kidney	carcinoma	22404690	c.109C>A	p.R37=	Substitution - coding silent	PATHOGENIC	.90919	Confirmed somatic variant	PMID: N/A	NS	37

Showing 1 to 20 of 45 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
PF00011	HSP20	Hsp20/alpha crystallin family	87-184	CL0190	HSP20	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Malignant tumor of colon	Neoplasms ; Digestive System Diseases ;	0.468	0.69
Renal Cell Carcinoma	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.468	0.69
Squamous cell carcinoma	Neoplasms ;	0.468	0.69
Hypertrophic Cardiomyopathy	Cardiovascular Diseases ;	0.468	0.69
Charcot-Marie-Tooth Disease	Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.468	0.69
Colonic Neoplasms	Neoplasms ; Digestive System Diseases ;	0.468	0.69
Contact Dermatitis	Skin and Connective Tissue Diseases ;	0.468	0.69
Heart failure	Cardiovascular Diseases ;	0.468	0.69
Congestive heart failure	Cardiovascular Diseases ;	0.468	0.69
HIV Infections	Virus Diseases ; Immune System Diseases ;	0.468	0.69
Hyperplasia	Pathological Conditions, Signs and Symptoms ;	0.468	0.69
Left-Sided Heart Failure	Cardiovascular Diseases ;	0.468	0.69
Leukemia, Myelocytic, Acute	Neoplasms ;	0.468	0.69
Malignant neoplasm of stomach	Neoplasms ; Digestive System Diseases ;	0.468	0.69
Mouth Neoplasms	Neoplasms ; Stomatognathic Diseases ;	0.468	0.69
Multiple Myeloma	Neoplasms ; Cardiovascular Diseases ; Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.468	0.69
Acute Myeloid Leukemia, M1	Neoplasms ;	0.468	0.69
Reperfusion Injury	Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ;	0.468	0.69
Status Epilepticus	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.468	0.69
Stomach Neoplasms	Neoplasms ; Digestive System Diseases ;	0.468	0.69
Tongue Neoplasms	Neoplasms ; Stomatognathic Diseases ;	0.468	0.69
Adenocarcinoma of lung (disorder)	Neoplasms ; Respiratory Tract Diseases ;	0.468	0.69
Malignant neoplasm of tongue	Neoplasms ; Stomatognathic Diseases ;	0.468	0.69
Malignant neoplasm of mouth	Neoplasms ; Stomatognathic Diseases ;	0.468	0.69
Contact hypersensitivity	Skin and Connective Tissue Diseases ;	0.468	0.69
Heart Failure, Right-Sided	Cardiovascular Diseases ;	0.468	0.69
Petit mal status	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.468	0.69
Conventional (Clear Cell) Renal Cell Carcinoma	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.468	0.69
Grand Mal Status Epilepticus	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.468	0.69
Complex Partial Status Epilepticus	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.468	0.69
Distal Muscular Dystrophies	Musculoskeletal Diseases ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.468	0.69
Status Epilepticus, Subclinical	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.468	0.69
Non-Convulsive Status Epilepticus	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.468	0.69
Simple Partial Status Epilepticus	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.468	0.69
Chromophobe Renal Cell Carcinoma	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.468	0.69
Sarcomatoid Renal Cell Carcinoma	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.468	0.69
Collecting Duct Carcinoma of the Kidney	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.468	0.69
Papillary Renal Cell Carcinoma	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.468	0.69
Hereditary Diffuse Gastric Cancer	Neoplasms ; Digestive System Diseases ;	0.468	0.69
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F	Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.468	0.69
Spinal muscular atrophy, Jerash type	Nervous System Diseases ;	0.468	0.69
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.468	0.69
Myocardial Failure	Cardiovascular Diseases ;	0.468	0.69
Heart Decompensation	Cardiovascular Diseases ;	0.468	0.69
Liver carcinoma	Neoplasms ; Digestive System Diseases ;	0.468	0.69
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	Nervous System Diseases ;	0.468	0.69
Distal Hereditary Motor Neuropathy, Type II	Nervous System Diseases ;	0.468	0.69
HIV Coinfection	Virus Diseases ; Immune System Diseases ;	0.468	0.69
NO RESULT FOUND

Description:	Xenopus tropicalis heat shock protein family B (small) member 1 (hspb1), mRNA. [Source:RefSeq mRNA;Acc:NM_001079349]
Synonyms:	hsp27, cmt2f, hsp25, hsp28, hs.76067
Other ID(s):	XB-GENE-480320, ENSXETG00000008972
Protein Accession Numbers:	NP_001072817
Statistics:	ClinVar(160) gnomAD(316) COSMIC(45) PTM(46)

Classification of Clinicial Significance of ClinVar Data