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.R222Q

c.665G>A

Surrounding Variants

18 papers

NM_001167.4

p.R222*

c.664C>T

1 paper

NM_001167.4

p.F224delFs

c.671delT

1 paper

NM_001167.4

p.F224Y

c.671T>A

3 papers

NM_001167.4

p.H220Y

c.658C>T

1 paper

NM_001167.4

p.P225S

c.673C>T

1 paper

NM_001167.4

p.P225fs

c.673_674fs

3 papers

NM_001167.4

p.E219K

c.655G>A

1 paper

NM_001167.4

p.N226H

c.676A>C

1 paper

NM_001167.4

p.S218*

c.653C>A

1 paper

NM_001167.4

p.S218*

c.653C>G

1 paper

NM_001167.4

p.W217*

c.651G>A

2 papers

NM_001167.4

p.W217fs

c.649_650fs