Varaico: Literature-Extracted Genetic Variants

Gene:DIABLO

DIABLO

85 papers

RefSeq Summary

This gene encodes an inhibitor of apoptosis protein (IAP)-binding protein. The encoded mitochondrial protein enters the cytosol when cells undergo apoptosis, and allows activation of caspases by bindi...

Pfam Domains

Smac_DIABLOaa 9–239UCSCSecond Mitochondria-derived Activator of Caspases

Gene Aliases

HGNC Name

diablo IAP-binding mitochondrial protein

HGNC Alias Symbols

SMAC; DIABLO-S; FLJ25049; FLJ10537; DFNA64

Papers
RefSeq ID
Protein change
DNA change
1–12 of 43 variants
11 papers
NM_001371333.1
p.S126L
c.377C>T
2 papers
NM_001371333.1
p.V26D
c.77T>A
1 paper
NM_001371333.1
p.L4L
c.12G>A
1 paper
NM_001371333.1
p.S14L
c.41C>T
1 paper
NM_001371333.1
p.K31K
c.93G>A
1 paper
NM_001371333.1
p.C34R
c.100T>C
1 paper
NM_001371333.1
p.V46G
c.137T>G
1 paper
NM_001371333.1
p.V46A
c.137T>C
1 paper
NM_001371333.1
p.I59V
c.175A>G
1 paper
NM_001371333.1
p.Q61*
c.181C>T
1 paper
NM_001371333.1
p.K62R
c.185A>G
1 paper
NM_001371333.1
p.P65_H66insFs
c.195_196insT
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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."