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

Selected Variant

1 paper

NM_001166.5

p.I510V

c.1528A>G

Surrounding Variants

1 paper

NM_001166.5

p.A506E

c.1517C>A

6 papers

NM_001166.5

p.A506V

c.1517C>T

1 paper

NM_001166.5

p.Q505E

c.1513C>G

6 papers

NM_001166.5

p.K516E

c.1546A>G

1 paper

NM_001166.5

p.G517E

c.1550G>A

1 paper

NM_001166.5

p.T500insFs

c.1498dupA

1 paper

NM_001166.5

p.L528V

c.1582C>G

1 paper

NM_001166.5

p.L528L

c.1582C>T

1 paper

NM_001166.5

p.Q491fs

c.1471_1472fs

1 paper

NM_001166.5

p.E530*

c.1588G>T

1 paper

NM_001166.5

p.N489_K490insFs

c.1467_1468insA

1 paper

NM_001166.5

p.D480G

c.1439A>G