Varaico: Literature-Extracted Genetic Variants

Gene:XIAP
Variant:p.D214Y

XIAP

484 papers

RefSeq Summary

This gene encodes a protein that belongs to a family of apoptotic suppressor proteins. Members of this family share a conserved motif termed, baculovirus IAP repeat, which is necessary for their anti-...

Pfam Domains

BIRaa 29–94UCSCInhibitor of Apoptosis domain
BIRaa 166–231UCSCInhibitor of Apoptosis domain
BIRaa 268–331UCSCInhibitor of Apoptosis domain
UBA_BIRC2-3aa 369–420UCSCBIRC2/3-like, UBA domain
zf-C3HC4_3aa 446–490UCSCZinc finger, C3HC4 type (RING finger)

Gene Aliases

HGNC Name

X-linked inhibitor of apoptosis

HGNC Previous Symbols

API3; BIRC4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001167.4
p.D214Y
c.640G>T
Surrounding Variants
1 paper
NM_001167.4
p.D214A
c.641A>C
1 paper
NM_001167.4
p.C213Y
c.638G>A
1 paper
NM_001167.4
p.C213S
c.638G>C
4 papers
NM_001167.4
p.C213G
c.637T>G
1 paper
NM_001167.4
p.R215H
c.644G>A
1 paper
NM_001167.4
p.R215L
c.644G>T
2 papers
NM_001167.4
p.A216T
c.646G>A
1 paper
NM_001167.4
p.E211A
c.632A>C
1 paper
NM_001167.4
p.E211G
c.632A>G
1 paper
NM_001167.4
p.E211_P212delFs
c.633_634delAC
1 paper
NM_001167.4
p.E211ins1
c.631_632insGAT
1 paper
NM_001167.4
p.E211fs
c.631_632fs
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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."