Varaico: Literature-Extracted Genetic Variants

Gene:XIAP
Variant:p.D420_S421delFs

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
2 papers
NM_001167.4
p.D420_S421delFs
c.1259_1262del4
Surrounding Variants
1 paper
NM_001167.4
p.K419fs
c.1255_1256fs
2 papers
NM_001167.4
p.D420fs
c.1258_1259fs
1 paper
NM_001167.4
p.Q418fs
c.1252_1253fs
2 papers
NM_001167.4
p.Q418_K419delFs
c.1253_1256del4
1 paper
NM_001167.4
p.S421_M422del2
c.1261_1265del6
2 papers
NM_001167.4
p.S421N
c.1262G>A
1 paper
NM_001167.4
p.M422insFs
c.1265_1266ins4
1 paper
NM_001167.4
p.N416D
c.1246A>G
1 paper
NM_001167.4
p.Q423_E425del0
c.1268_1273del6
19 papers
NM_001167.4
p.Q423P
c.1268A>C
1 paper
NM_001167.4
p.V415M
c.1243G>A
1 paper
NM_001167.4
p.V415fs
c.1243_1244fs
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