Varaico: Literature-Extracted Genetic Variants

Gene:CASP7
Variant:p.T44delFs

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
1 paper
NM_001227.5
p.T44delFs
c.130_131delAC
Surrounding Variants
3 papers
NM_001227.5
p.V43delFs
c.128_129delTC
1 paper
NM_001227.5
p.T44S
c.130A>T
1 paper
NM_001227.5
p.T44S
c.131C>G
1 paper
NM_001227.5
p.R46*
c.136C>T
1 paper
NM_001227.5
p.S47F
c.140C>T
1 paper
NM_001227.5
p.P56A
c.166C>G
1 paper
NM_001227.5
p.P56delins
c.166delinsTCCG
1 paper
NM_001227.5
p.M62insFs
c.185_186insA
1 paper
NM_001227.5
p.N63S
c.188A>G
1 paper
NM_001227.5
p.E65_K66insFs
c.195_196insT
1 paper
NM_001227.5
p.C70Y
c.209G>A
1 paper
NM_001227.5
p.N75fs
c.223_224fs
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