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.V409L

c.1225G>T

Surrounding Variants

1 paper

NM_001166.5

p.V409L

c.1225G>C

1 paper

NM_001166.5

p.S415_K416delFs

c.1245_1248del4

1 paper

NM_001166.5

p.K416R

c.1247A>G

1 paper

NM_001166.5

p.V395fs

c.1183_1184fs

1 paper

NM_001166.5

p.V427insFs

c.1279_1280insA

1 paper

NM_001166.5

p.E440insFs

c.1318_1319insA

1 paper

NM_001166.5

p.I376fs

c.1126_1127fs

1 paper

NM_001166.5

p.I375Splc

c.1124-1G>C

1 paper

NM_001166.5

p.E447K

c.1339G>A

1 paper

NM_001166.5

p.A450D

c.1349C>A

1 paper

NM_001166.5

p.M453V

c.1357A>G

2 papers

NM_001166.5

p.M453I

c.1359G>A