Varaico: Literature-Extracted Genetic Variants

Gene:XIAP
Variant:p.L207P

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
8 papers
NM_001167.4
p.L207P
c.620T>C
Surrounding Variants
1 paper
NM_001167.4
p.K206I
c.617A>T
1 paper
NM_001167.4
p.N209T
c.626A>C
1 paper
NM_001167.4
p.G205del1
c.613_614delGGA
1 paper
NM_001167.4
p.E211ins1
c.631_632insGAT
1 paper
NM_001167.4
p.E211fs
c.631_632fs
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
14 papers
NM_001167.4
p.C203Y
c.608G>A
1 paper
NM_001167.4
p.C203F
c.608G>T
4 papers
NM_001167.4
p.G204del1
c.610_611delGGT
1 paper
NM_001167.4
p.C202C
c.606T>C
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