ConVarT

CASP7 (GeneID: 840) | Homo sapiens

Description:	caspase 7 [Source:HGNC Symbol;Acc:HGNC:1508]
Synonyms:	LICE2, CASP-7, ICE-LAP3, MCH3, CMH-1
Other ID(s):	HGNC:1508, ENSG00000165806
Protein Accession Numbers:	NP_001218, ENST00000369331, NP_203124, ENST00000369315, NP_001253986, ENST00000452490, NP_203126, ENST00000369321, NP_001307840, ENST00000345633, NP_001253985, ENST00000429617, NP_203125, ENST00000369318, NP_001253987
Statistics:	gnomAD(207)

gnomAD Variants By Annotation

Frameshift Variant

Inframe Deletion

Inframe Insertion

Missense Variant

Splice Region Variant

Stop Gained

Synonymous Variant

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000369315 ENST00000369318 ENST00000369321 ENST00000369331 ENST00000429617 ENST00000452490 NP_001218 NP_001253985 NP_001253986 NP_001253987 NP_001307840 NP_203124 NP_203125 NP_203126 isoformButton ">ENST00000345633

ClinVar Data

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

Splice Region Variant

Stop Gained

Synonymous Variant

Show entries

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
10-115457262-G-T	ENST00000429617	p.Asp4Tyr	Missense Variant	0	0	0	rs760037965
10-115457264-T-C	ENST00000429617	p.Asp4Asp	Synonymous Variant	1	31352	0.000032	rs11555408
10-115457264-T-G	ENST00000429617	p.Asp4Glu	Missense Variant	3286	31352	0.10481	rs11555408
10-115457265-C-A	ENST00000429617	p.Gln5Lys	Missense Variant	0	0	0	rs776136915
10-115457275-T-C	ENST00000429617	p.Ile8Thr	Missense Variant	0	0	0	rs759300961
10-115457279-A-G	ENST00000429617	p.Glu9Glu	Synonymous Variant	0	0	0	rs765674065
10-115457282-G-C	ENST00000429617	p.Glu10Asp	Missense Variant	0	0	0	rs753061397
10-115457284-AG-A	ENST00000429617	p.Val13LeufsTer50	Frameshift Variant	2	31366	0.000064	rs1409918710
10-115457287-G-A	ENST00000429617	p.Gly12Glu	Missense Variant	22	31372	0.000701	rs147218371
10-115457288-G-A	ENST00000429617	p.Gly12Gly	Synonymous Variant	0	0	0	rs764437283
10-115457289-G-T	ENST00000429617	p.Val13Phe	Missense Variant	0	0	0	rs1362707521
10-115457290-T-C	ENST00000429617	p.Val13Ala	Missense Variant	0	0	0	rs1230945619
10-115457295-G-A	ENST00000429617	p.Asp15Asn	Missense Variant	0	0	0	rs1298562394
10-115457296-A-T	ENST00000429617	p.Asp15Val	Missense Variant	1	31364	0.000032	rs367975864
10-115457303-A-G	ENST00000429617	p.Ala17Ala	Synonymous Variant	0	0	0	rs1217532833
10-115457304-A-C	ENST00000429617	p.Asn18His	Missense Variant	0	0	0	rs1280747468
10-115457306-TGAA-T	ENST00000429617	p.Glu19del	Inframe Deletion	0	0	0	rs753028349
10-115457330-A-G	ENST00000429617	p.Pro26Pro	Synonymous Variant	0	0	0	rs757268582
10-115457334-C-T	ENST00000429617	p.Arg28Trp	Missense Variant	4	31376	0.000127	rs372133111
10-115457335-G-A	ENST00000429617	p.Arg28Gln	Missense Variant	3	31368	0.000096	rs115389257

Showing 1 to 20 of 207 entries

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Post-translational Modifications (PTMs)

Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID

Catalogue of Somatic Mutations in Cancer (COSMIC)

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

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
NO DOMAINS EXIST

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Malignant neoplasm of breast	Neoplasms ; Skin and Connective Tissue Diseases ;	0.611	0.586
Leukemia, Myelocytic, Acute	Neoplasms ;	0.611	0.586
Liver Cirrhosis, Experimental	Digestive System Diseases ;	0.611	0.586
Acute Myeloid Leukemia, M1	Neoplasms ;	0.611	0.586
Myocardial Reperfusion Injury	Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ;	0.611	0.586
Vitiligo	Skin and Connective Tissue Diseases ;	0.611	0.586
Breast Carcinoma	Neoplasms ; Skin and Connective Tissue Diseases ;	0.611	0.586
Mammary Neoplasms, Human	Neoplasms ; Skin and Connective Tissue Diseases ;	0.611	0.586
Mammary Neoplasms	Neoplasms ; Skin and Connective Tissue Diseases ;	0.611	0.586
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.611	0.586
NO RESULT FOUND

Classification of Clinicial Significance of ClinVar Data