Varaico: Literature-Extracted Genetic Variants

Gene:BIRC2
Variant:p.L313F

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.L313F
c.939G>C
Surrounding Variants
1 paper
NM_001166.5
p.L313F
c.939G>T
1 paper
NM_001166.5
p.L313S
c.938T>C
1 paper
NM_001166.5
p.W316R
c.946T>A
1 paper
NM_001166.5
p.W316R
c.946T>C
1 paper
NM_001166.5
p.S318P
c.952T>C
1 paper
NM_001166.5
p.C309S
c.925T>A
1 paper
NM_001166.5
p.G319E
c.956G>A
1 paper
NM_001166.5
p.D320N
c.958G>A
2 papers
NM_001166.5
p.D320A
c.959A>C
1 paper
NM_001166.5
p.C306W
c.918C>G
1 paper
NM_001166.5
p.D303A
c.908A>C
1 paper
NM_001166.5
p.E325A
c.974A>C
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