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

5 papers

NM_001165.5

p.T556delFs

c.1667delC

Surrounding Variants

3 papers

NM_001165.5

p.T556fs

c.1666_1667fs

2 papers

NM_001165.5

p.T556fs

c.1666_1667fs

1 paper

NM_001165.5

p.C557ins1

c.1669_1670insTTT

1 paper

NM_001165.5

p.R555I

c.1664G>T

3 papers

NM_001165.5

p.R555fs

c.1663_1664fs

1 paper

NM_001165.5

p.R555R

c.1663A>C

1 paper

NM_001165.5

p.R555G

c.1663A>G

3 papers

NM_001165.5

p.R555fs

c.1663_1664fs

1 paper

NM_001165.5

p.C557S

c.1669T>A

1 paper

NM_001165.5

p.C557R

c.1669T>C

1 paper

NM_001165.5

p.C557fs

c.1669_1670fs

2 papers

NM_001165.5

p.R555delFs

c.1664_1665delGA