Varaico: Literature-Extracted Genetic Variants

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.F462V

c.1384T>G

Surrounding Variants

2 papers

NM_001167.4

p.F462Y

c.1385T>A

1 paper

NM_001167.4

p.V461I

c.1381G>A

1 paper

NM_001167.4

p.A459V

c.1376C>T

1 paper

NM_001167.4

p.A459fs

c.1375_1376fs

16 papers

NM_001167.4

p.G466*

c.1396G>T

1 paper

NM_001167.4

p.N457fs

c.1369_1370fs

1 paper

NM_001167.4

p.H467Y

c.1399C>T

1 paper

NM_001167.4

p.N457insFs

c.1370dupA

1 paper

NM_001167.4

p.T470A

c.1408A>G

11 papers

NM_001167.4

p.T470S

c.1408A>T

11 papers

NM_001167.4

p.T470S

c.1409C>G

1 paper

NM_001167.4

p.K472R

c.1415A>G