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.L184P

c.551T>C

Surrounding Variants

1 paper

NM_001165.5

p.L181F

c.543G>C

2 papers

NM_001165.5

p.D188N

c.562G>A

1 paper

NM_001165.5

p.A192T

c.574G>A

1 paper

NM_001165.5

p.A192V

c.575C>T

3 papers

NM_001165.5

p.T175I

c.524C>T

1 paper

NM_001165.5

p.Y195_Y196delFs

c.585_586delCT

1 paper

NM_001165.5

p.R172K

c.515G>A

1 paper

NM_001165.5

p.R172I

c.515G>T

1 paper

NM_001165.5

p.D201Y

c.601G>T

1 paper

NM_001165.5

p.R202T

c.605G>C

1 paper

NM_001165.5

p.R202S

c.606A>C

1 paper

NM_001165.5

p.R202R

c.606A>G