Varaico: Literature-Extracted Genetic Variants

BIRC3

322 papers

RefSeq Summary

This gene encodes a member of the IAP family of proteins that inhibit apoptosis by binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2, probably by interfering with activation...

Pfam Domains

BIRaa 32–97UCSCInhibitor of Apoptosis domain

BIRaa 172–236UCSCInhibitor of Apoptosis domain

BIRaa 258–323UCSCInhibitor of Apoptosis domain

UBA_BIRC2-3aa 374–426UCSCBIRC2/3-like, UBA domain

CARDaa 444–528UCSCCaspase recruitment domain

zf-C3HC4_3aa 553–598UCSCZinc finger, C3HC4 type (RING finger)

Gene Aliases

HGNC Name

baculoviral IAP repeat containing 3

HGNC Previous Symbol

API2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001165.5

p.R549fs

c.1645_1646fs

Surrounding Variants

1 paper

NM_001165.5

p.R549W

c.1645C>T

1 paper

NM_001165.5

p.R549delFs

c.1647delG

2 papers

NM_001165.5

p.R549fs

c.1645_1646fs

1 paper

NM_001165.5

p.R550insFs

c.1648dupA

2 papers

NM_001165.5

p.L548insFs

c.1644dupG

1 paper

NM_001165.5

p.R550fs

c.1648_1649fs

9 papers

NM_001165.5

p.Q547fs

c.1639_1640fs

3 papers

NM_001165.5

p.Q547*

c.1639C>T

1 paper

NM_001165.5

p.Q547delFs

c.1641delA

6 papers

NM_001165.5

p.Q547fs

c.1639_1640fs

9 papers

NM_001165.5

p.Q547delFs

c.1639delC

1 paper

NM_001165.5

p.Q547delFs

c.1639_1640delCA