Varaico: Literature-Extracted Genetic Variants

Gene:CASP7
Variant:p.K285N

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.K285N
c.855G>T
Surrounding Variants
1 paper
NM_001227.5
p.K285N
c.855G>C
1 paper
NM_001227.5
p.I288M
c.864C>G
1 paper
NM_001227.5
p.H281R
c.842A>G
1 paper
NM_001227.5
p.H281D
c.841C>G
1 paper
NM_001227.5
p.D278E
c.834T>A
1 paper
NM_001227.5
p.D278E
c.834T>G
1 paper
NM_001227.5
p.Q303P
c.908A>C
1 paper
NM_001267057.1
p.R349G
c.1045A>G
1 paper
NM_001227.5
p.Q260*
c.778C>T
11 papers
NM_001227.5
p.D255E
c.765C>A
11 papers
NM_001227.5
p.D255E
c.765C>G
1 paper
NM_001227.5
p.I248V
c.742A>G
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