Varaico: Literature-Extracted Genetic Variants

Gene:CASP3
Variant:p.S249A

CASP3

926 papers

RefSeq Summary

The protein encoded by this gene is a cysteine-aspartic acid protease that plays a central role in the execution-phase of cell apoptosis. The encoded protein cleaves and inactivates poly(ADP-ribose) p...

Pfam Domains

Peptidase_C14aa 44–274UCSCCaspase domain

Gene Aliases

HGNC Name

caspase 3

HGNC Alias Symbols

CPP32; CPP32B; Yama; apopain

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_004346.4
p.S249A
c.745T>G
Surrounding Variants
1 paper
NM_004346.4
p.S249C
c.746C>G
1 paper
NM_004346.4
p.E248K
c.742G>A
1 paper
NM_004346.4
p.E246A
c.737A>C
1 paper
NM_004346.4
p.T245I
c.734C>T
1 paper
NM_004346.4
p.D253D
c.759C>T
1 paper
NM_004346.4
p.A244V
c.731C>T
1 paper
NM_004346.4
p.F232_R241delFs
c.694_722del29
1 paper
NM_004346.4
p.R241L
c.722G>T
1 paper
NM_004346.4
p.F256del1
c.766_768delAAA
1 paper
NM_004346.4
p.V239I
c.715G>A
2 papers
NM_004346.4
p.R238W
c.712C>T
1 paper
NM_004346.4
p.Q261*
c.781C>T
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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."