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

2 papers

NM_001165.5

p.C560Y

c.1679G>A

Surrounding Variants

1 paper

NM_001165.5

p.C560R

c.1678T>C

1 paper

NM_001165.5

p.M561V

c.1681A>G

3 papers

NM_001165.5

p.V559A

c.1676T>C

1 paper

NM_001165.5

p.V559fs

c.1675_1676fs

1 paper

NM_001165.5

p.M561_I570delins

c.1683_1710delinsC

1 paper

NM_001165.5

p.V559delFs

c.1676delT

1 paper

NM_001165.5

p.V559fs

c.1675_1676fs

1 paper

NM_001165.5

p.V559delFs

c.1675_1676delGT

1 paper

NM_001165.5

p.V559_D562delFs

c.1675_1684del10

1 paper

NM_001165.5

p.D562A

c.1685A>C

1 paper

NM_001165.5

p.K558fs

c.1672_1673fs

1 paper

NM_001165.5

p.K558E

c.1672A>G