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.V60L

c.178G>C

Surrounding Variants

1 paper

NM_001165.5

p.V60L

c.178G>T

1 paper

NM_001165.5

p.V60V

c.180G>T

1 paper

NM_001165.5

p.N61I

c.182A>T

1 paper

NM_001165.5

p.D62E

c.186C>A

1 paper

NM_001165.5

p.K65T

c.194A>C

1 paper

NM_001165.5

p.A53T

c.157G>A

2 papers

NM_001165.5

p.R52H

c.155G>A

3 papers

NM_001165.5

p.R52C

c.154C>T

1 paper

NM_001165.5

p.A51V

c.152C>T

1 paper

NM_001165.5

p.C68*

c.204T>A

1 paper

NM_001165.5

p.G70R

c.208G>C

1 paper

NM_001165.5

p.E47A

c.140A>C