Varaico: Literature-Extracted Genetic Variants

Gene:XIAP
Variant:p.C200Fs

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.C200Fs
c.599delinsGTFs
Surrounding Variants
1 paper
NM_001167.4
p.C200del1
c.598_600delTGC
2 papers
NM_001167.4
p.Q199*
c.595C>T
6 papers
NM_001167.4
p.V198M
c.592G>A
1 paper
NM_001167.4
p.C202C
c.606T>C
4 papers
NM_001167.4
p.G204del1
c.610_611delGGT
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.Q197*
c.589C>T
2 papers
NM_001167.4
p.D196G
c.587A>G
1 paper
NM_001167.4
p.G205del1
c.613_614delGGA
2 papers
NM_001167.4
p.G195_D196insT
c.583_587ins3
1 paper
NM_001167.4
p.K206I
c.617A>T
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