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

9 papers

NM_001165.5

p.Q547delFs

c.1639delC

Surrounding Variants

1 paper

NM_001165.5

p.Q547delFs

c.1639_1640delCA

9 papers

NM_001165.5

p.Q547fs

c.1639_1640fs

3 papers

NM_001165.5

p.Q547*

c.1639C>T

1 paper

NM_001165.5

p.Q547delFs

c.1641delA

6 papers

NM_001165.5

p.Q547fs

c.1639_1640fs

1 paper

NM_001165.5

p.E546_Q547insFs

c.1638_1639insA

2 papers

NM_001165.5

p.E546*

c.1636G>T

1 paper

NM_001165.5

p.E546fs

c.1636_1637fs

1 paper

NM_001165.5

p.E546_Q547delFs

c.1636_1639del4

1 paper

NM_001165.5

p.E545K

c.1633G>A

1 paper

NM_001165.5

p.E545*

c.1633G>T

2 papers

NM_001165.5

p.L548insFs

c.1644dupG