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

3 papers

NM_001165.5

p.Y533*

c.1599T>A

Surrounding Variants

3 papers

NM_001165.5

p.Y533*

c.1599T>G

2 papers

NM_001165.5

p.Y533H

c.1597T>C

1 paper

NM_001165.5

p.I534S

c.1601T>G

1 paper

NM_001165.5

p.Y533insFs

c.1598dupA

1 paper

NM_001165.5

p.P535delFs

c.1603delC

1 paper

NM_001165.5

p.P535fs

c.1603_1604fs

1 paper

NM_001165.5

p.I531V

c.1591A>G

2 papers

NM_001165.5

p.T536R

c.1607C>G

1 paper

NM_001165.5

p.D530E

c.1590C>A

1 paper

NM_001165.5

p.D530E

c.1590C>G

1 paper

NM_001165.5

p.D530Y

c.1588G>T

1 paper

NM_001165.5

p.D530fs

c.1588_1589fs