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.L585_R586del2

c.1753_1757del6

Surrounding Variants

1 paper

NM_001165.5

p.L585_R586delFs

c.1754_1757del4

1 paper

NM_001165.5

p.L585*

c.1754T>A

1 paper

NM_001165.5

p.L585*

c.1754T>G

1 paper

NM_001165.5

p.R586G

c.1756A>G

1 paper

NM_001165.5

p.K587_C591del0

c.1760_1771del12

1 paper

NM_001165.5

p.A582D

c.1745C>A

1 paper

NM_001165.5

p.C581Y

c.1742G>A

1 paper

NM_001165.5

p.C588S

c.1762T>A

1 paper

NM_001165.5

p.C588R

c.1762T>C

1 paper

NM_001165.5

p.C588Y

c.1763G>A

1 paper

NM_001165.5

p.C588S

c.1763G>C

1 paper

NM_001165.5

p.P589A

c.1765C>G