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

2 papers

NM_001167.4

p.R72S

c.216A>T

Surrounding Variants

1 paper

NM_001167.4

p.R72K

c.215G>A

1 paper

NM_001167.4

p.R72G

c.214A>G

1 paper

NM_001167.4

p.W73*

c.218G>A

1 paper

NM_001167.4

p.W73S

c.218G>C

2 papers

NM_001167.4

p.W73*

c.219G>A

1 paper

NM_001167.4

p.Q74*

c.220C>T

2 papers

NM_001167.4

p.D71N

c.211G>A

1 paper

NM_001167.4

p.Y75C

c.224A>G

1 paper

NM_001167.4

p.A69delFs

c.205delG

1 paper

NM_001167.4

p.A68E

c.203C>A

2 papers

NM_001167.4

p.H67R

c.200A>G

1 paper

NM_001167.4

p.S78*

c.233C>A