Varaico: Literature-Extracted Genetic Variants

Gene:XIAP
Variant:p.N112_G113del2

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.N112_G113del2
c.334_338del6
Surrounding Variants
3 papers
NM_001167.4
p.Q111*
c.331C>T
1 paper
NM_001167.4
p.I110I
c.330C>A
1 paper
NM_001167.4
p.G113R
c.337G>C
1 paper
NM_001167.4
p.G113C
c.337G>T
1 paper
NM_001167.4
p.G113insFs
c.339dupT
2 papers
NM_001167.4
p.Q114*
c.340C>T
1 paper
NM_001167.4
p.G109fs
c.325_326fs
1 paper
NM_001167.4
p.Y115_K116insG
c.343_347ins3
1 paper
NM_001167.4
p.Y115C
c.344A>G
1 paper
NM_001167.4
p.Y115*
c.345C>A
1 paper
NM_001167.4
p.Y115*
c.345C>G
1 paper
NM_001167.4
p.N107S
c.320A>G
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