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.A435delFs

c.1304delC

Surrounding Variants

1 paper

NM_001165.5

p.A435fs

c.1303_1304fs

1 paper

NM_001165.5

p.R434fs

c.1300_1301fs

1 paper

NM_001165.5

p.R434*

c.1300A>T

5 papers

NM_001165.5

p.R434fs

c.1300_1301fs

1 paper

NM_001165.5

p.E433K

c.1297G>A

4 papers

NM_001165.5

p.E433fs

c.1297_1298fs

2 papers

NM_001165.5

p.E433*

c.1297G>T

2 papers

NM_001165.5

p.E433_R434delFs

c.1299_1300delAA

2 papers

NM_001165.5

p.E433fs

c.1297_1298fs

2 papers

NM_001165.5

p.R432_E433delFs

c.1296_1299del4

4 papers

NM_001165.5

p.R432insFs

c.1295dupG

2 papers

NM_001165.5

p.R432fs

c.1294_1295fs