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

2 papers

NM_001165.5

p.P217L

c.650C>T

Surrounding Variants

1 paper

NM_001165.5

p.K218R

c.653A>G

1 paper

NM_001165.5

p.W215*

c.645G>A

1 paper

NM_001165.5

p.W215*

c.644G>A

1 paper

NM_001165.5

p.G210V

c.629G>T

1 paper

NM_001165.5

p.L226L

c.678G>T

1 paper

NM_001165.5

p.F206L

c.618T>A

1 paper

NM_001165.5

p.F229delFs

c.685_686delTT

1 paper

NM_001165.5

p.F229I

c.685T>A

1 paper

NM_001165.5

p.R202S

c.606A>C

1 paper

NM_001165.5

p.R202R

c.606A>G

1 paper

NM_001165.5

p.R202S

c.606A>T

1 paper

NM_001165.5

p.R202T

c.605G>C