Varaico: Literature-Extracted Genetic Variants

BIRC2

175 papers

RefSeq Summary

The protein encoded by this gene is a member of a family of proteins that inhibits apoptosis by binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2, probably by interfering wi...

Pfam Domains

BIRaa 49–114UCSCInhibitor of Apoptosis domain

BIRaa 187–251UCSCInhibitor of Apoptosis domain

BIRaa 272–337UCSCInhibitor of Apoptosis domain

UBA_BIRC2-3aa 388–440UCSCBIRC2/3-like, UBA domain

CARDaa 458–542UCSCCaspase recruitment domain

zf-C3HC4_3aa 567–612UCSCZinc finger, C3HC4 type (RING finger)

Gene Aliases

HGNC Name

baculoviral IAP repeat containing 2

HGNC Previous Symbol

API1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 132 variants

6 papers

NM_001166.5

p.A506V

c.1517C>T

6 papers

NM_001166.5

p.K516E

c.1546A>G

3 papers

NM_001166.5

p.V573A

c.1718T>C

2 papers

NM_001166.5

p.G12D

c.35G>A

2 papers

NM_001166.5

p.S152A

c.454T>G

2 papers

NM_001166.5

p.S202*

c.605C>A

2 papers

NM_001166.5

p.S253F

c.758C>T

2 papers

NM_001166.5

p.D320A

c.959A>C

2 papers

NM_001166.5

p.Q342H

c.1026A>C

2 papers

NM_001166.5

p.Q342H

c.1026A>T

2 papers

NM_001166.5

p.M453I

c.1359G>A

2 papers

NM_001166.5

p.M453I

c.1359G>C