Varaico: Literature-Extracted Genetic Variants

Gene:XIAP
Variant:p.D130fs

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.D130fs
c.388_389fs
Surrounding Variants
1 paper
NM_001167.4
p.D130fs
c.388_389fs
6 papers
NM_001167.4
p.L129_D130delFs
c.387_390del4
2 papers
NM_001167.4
p.L129fs
c.385_386fs
1 paper
NM_001167.4
p.R131_P132delFs
c.393_394delGC
1 paper
NM_001167.4
p.R131S
c.393G>C
1 paper
NM_001167.4
p.R131S
c.393G>T
1 paper
NM_001167.4
p.A128S
c.382G>T
1 paper
NM_001167.4
p.S133F
c.398C>T
1 paper
NM_001167.4
p.H136ins2
c.407_408ins6
2 papers
NM_001167.4
p.S123N
c.368G>A
1 paper
NM_001167.4
p.S123I
c.368G>T
2 papers
NM_001167.4
p.A137_D138insT
c.409_413ins3
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