Varaico: Literature-Extracted Genetic Variants

Gene:PMAIP1
Variant:p.M1I

PMAIP1

57 papers

RefSeq Summary

This gene belongs to a pro-apoptotic subfamily within the BCL-2 protein family, referred to as the BCL-2 homology domain 3 (BH3)-only subfamily, which determine whether a cell commits to apoptosis. In...

Pfam Domains

PMAIP1aa 1–54UCSCPhorbol-12-myristate-13-acetate-induced

Gene Aliases

HGNC Name

phorbol-12-myristate-13-acetate-induced protein 1

HGNC Alias Symbol

APR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021127.3
p.M1I
c.3G>A
Surrounding Variants
1 paper
NM_021127.3
p.M1I
c.3G>C
1 paper
NM_021127.3
p.M1I
c.3G>T
1 paper
NM_021127.3
p.E20Splc
c.58+16G>A
1 paper
NM_021127.3
p.E20Splc
c.58+125G>C
1 paper
NM_021127.3
p.E20delFs
c.59_60delAG
1 paper
NM_021127.3
p.E24K
c.70G>A
1 paper
NM_021127.3
p.E24*
c.70G>T
1 paper
NM_021127.3
p.C25delFs
c.73delT
1 paper
NM_021127.3
p.C25fs
c.73_74fs
1 paper
NM_021127.3
p.C25C
c.75T>C
1 paper
NM_021127.3
p.G33delFs
c.97delG
1 paper
NM_021127.3
p.G33E
c.98G>A
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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."