Varaico: Literature-Extracted Genetic Variants

Gene:CASP7
Variant:p.D4E

CASP7

160 papers

RefSeq Summary

This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as i...

Pfam Domains

Peptidase_C14aa 67–300UCSCCaspase domain
Peptidase_C14aa 67–300UCSCCaspase domain

Gene Aliases

HGNC Name

caspase 7

HGNC Alias Symbols

MCH3; CMH-1; ICE-LAP3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001227.5
p.D4E
c.12T>G
Surrounding Variants
2 papers
NM_001227.5
p.D4E
c.12T>A
1 paper
NM_001227.5
p.Q5K
c.13C>A
1 paper
NM_001227.5
p.Q5E
c.13C>G
1 paper
NM_001227.5
p.G6A
c.17G>C
1 paper
NM_001227.5
p.C7F
c.20G>T
1 paper
NM_001227.5
p.G12W
c.34G>T
1 paper
NM_001227.5
p.G12G
c.36G>C
2 papers
NM_001227.5
p.E19A
c.56A>C
1 paper
NM_001227.5
p.E19_D20delins
c.56_59delinsTCCG
1 paper
NM_001227.5
p.V22V
c.66G>A
1 paper
NM_001227.5
p.D23A
c.68A>C
1 paper
NM_001227.5
p.P26A
c.76C>G
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