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.E372K

c.1114G>A

Surrounding Variants

1 paper

NM_001165.5

p.A374delFs

c.1121delC

1 paper

NM_001165.5

p.A374fs

c.1120_1121fs

1 paper

NM_001165.5

p.G367_N378delFs

c.1101_1132del32

2 papers

NM_001165.5

p.G367fs

c.1099_1100fs

1 paper

NM_001165.5

p.G367delFs

c.1100_1101delGA

1 paper

NM_001165.5

p.N378K

c.1134T>A

1 paper

NM_001165.5

p.N378K

c.1134T>G

3 papers

NM_001165.5

p.E365*

c.1093G>T

1 paper

NM_001165.5

p.P380fs

c.1138_1139fs

1 paper

NM_001165.5

p.H363delFs

c.1089delT

1 paper

NM_001165.5

p.H363fs

c.1087_1088fs

2 papers

NM_001165.5

p.A385T

c.1153G>A