Varaico: Literature-Extracted Genetic Variants

Gene:CASP7
Variant:p.S234R

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.S234R
c.700A>C
Surrounding Variants
1 paper
NM_001227.5
p.S234N
c.701G>A
1 paper
NM_001227.5
p.R233S
c.699G>C
2 papers
NM_001227.5
p.S234R
c.702C>A
2 papers
NM_001227.5
p.S234R
c.702C>G
1 paper
NM_001227.5
p.P235S
c.703C>T
4 papers
NM_001227.5
p.Y230*
c.690C>G
1 paper
NM_001227.5
p.Q243Q
c.729A>G
1 paper
NM_001227.5
p.I248V
c.742A>G
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.Q260*
c.778C>T
1 paper
NM_001267057.1
p.R349G
c.1045A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."