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.E564*

c.1690G>T

Surrounding Variants

1 paper

NM_001165.5

p.V565insFs

c.1694_1695ins4

1 paper

NM_001165.5

p.V565_I567delFs

c.1693_1699del7

1 paper

NM_001165.5

p.D562A

c.1685A>C

1 paper

NM_001165.5

p.M561_I570delins

c.1683_1710delinsC

1 paper

NM_001165.5

p.I567fs

c.1699_1700fs

1 paper

NM_001165.5

p.M561V

c.1681A>G

2 papers

NM_001165.5

p.C560Y

c.1679G>A

1 paper

NM_001165.5

p.C560R

c.1678T>C

1 paper

NM_001165.5

p.V568E

c.1703T>A

1 paper

NM_001165.5

p.V568A

c.1703T>C

1 paper

NM_001165.5

p.V568G

c.1703T>G

3 papers

NM_001165.5

p.V559A

c.1676T>C