Varaico: Literature-Extracted Genetic Variants

Gene:XIAP
Variant:p.A50T

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
2 papers
NM_001167.4
p.A50T
c.148G>A
Surrounding Variants
1 paper
NM_001167.4
p.A50P
c.148G>C
2 papers
NM_001167.4
p.R49Q
c.146G>A
3 papers
NM_001167.4
p.R49*
c.145C>T
1 paper
NM_001167.4
p.G51R
c.151G>A
1 paper
NM_001167.4
p.G51R
c.151G>C
1 paper
NM_001167.4
p.L53P
c.158T>C
1 paper
NM_001167.4
p.T46K
c.137C>A
2 papers
NM_001167.4
p.T46insFs
c.137_138insT
2 papers
NM_001167.4
p.Y54C
c.161A>G
1 paper
NM_001167.4
p.T55_C63del9
c.163_188del27
1 paper
NM_001167.4
p.T55I
c.164C>T
1 paper
NM_001167.4
p.A44T
c.130G>A
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