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

9 papers

NM_001167.4

p.E349del1

c.1045_1046delGAG

Surrounding Variants

1 paper

NM_001167.4

p.E349*

c.1045G>T

1 paper

NM_001167.4

p.L348insFs

c.1043_1044ins4

1 paper

NM_001167.4

p.E349A

c.1046A>C

1 paper

NM_001167.4

p.L348fs

c.1042_1043fs

1 paper

NM_001167.4

p.L348delFs

c.1042_1043delCT

1 paper

NM_001167.4

p.S347fs

c.1039_1040fs

2 papers

NM_001167.4

p.C351S

c.1051T>A

2 papers

NM_001167.4

p.C351S

c.1052G>C

1 paper

NM_001167.4

p.L352insFs

c.1054dupC

1 paper

NM_001167.4

p.T345I

c.1034C>T

1 paper

NM_001167.4

p.L352L

c.1054C>T

2 papers

NM_001167.4

p.H346_S347delFs

c.1038_1041del4