Varaico: Literature-Extracted Genetic Variants

Gene:DIABLO
Variant:p.K62R

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
Selected Variant
1 paper
NM_001371333.1
p.K62R
c.185A>G
Surrounding Variants
1 paper
NM_001371333.1
p.P65_H66insFs
c.195_196insT
1 paper
NM_001371333.1
p.S67F
c.200C>T
1 paper
NM_001371333.1
p.L68R
c.203T>G
1 paper
NM_001371333.1
p.S86C
c.257C>G
1 paper
NM_001371333.1
p.S86Y
c.257C>A
1 paper
NM_001371333.1
p.S90_Q91delFs
c.270_271delGA
1 paper
NM_001371333.1
p.Q91fs
c.271_272fs
1 paper
NM_001371333.1
p.A95V
c.284C>T
1 paper
NM_001371333.1
p.A106D
c.317C>A
1 paper
NM_001371333.1
p.T111I
c.332C>T
1 paper
NM_001371333.1
p.Y114N
c.340T>A
1 paper
NM_001371333.1
p.Y114S
c.341A>C
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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."