Varaico: Literature-Extracted Genetic Variants

Gene:XIAP
Variant:p.I389_I392del4

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.I389_I392del4
c.1165_1175del12
Surrounding Variants
1 paper
NM_001167.4
p.I389V
c.1165A>G
1 paper
NM_001167.4
p.I389F
c.1165A>T
3 papers
NM_001167.4
p.K387_K390del4
c.1159_1169del12
1 paper
NM_001167.4
p.M393_E394del2
c.1177_1181del6
1 paper
NM_001167.4
p.E394_E395insFs
c.1182_1183insT
1 paper
NM_001167.4
p.I397delFs
c.1189delA
1 paper
NM_001167.4
p.M382T
c.1145T>C
1 paper
NM_001167.4
p.K396*
c.1186A>T
1 paper
NM_001167.4
p.R381Q
c.1142G>A
25 papers
NM_001167.4
p.R381*
c.1141C>T
1 paper
NM_001167.4
p.R381delFs
c.1141delC
1 paper
NM_001167.4
p.I397F
c.1189A>T
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