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.E430fs

c.1288_1289fs

Surrounding Variants

2 papers

NM_001165.5

p.E430fs

c.1288_1289fs

1 paper

NM_001165.5

p.E430insFs

c.1288_1289insG

1 paper

NM_001165.5

p.E430_E431insFs

c.1290_1291insA

2 papers

NM_001165.5

p.E431delFs

c.1292_1293delAG

1 paper

NM_001165.5

p.R432_E433delFs

c.1295_1298del4

2 papers

NM_001165.5

p.E429insFs

c.1287dupA

5 papers

NM_001165.5

p.E429fs

c.1285_1286fs

3 papers

NM_001165.5

p.E431fs

c.1291_1292fs

1 paper

NM_001165.5

p.E431*

c.1291G>T

2 papers

NM_001165.5

p.E429fs

c.1285_1286fs

1 paper

NM_001165.5

p.R428_E429insFs

c.1284_1285insA

1 paper

NM_001165.5

p.E429_E430delFs

c.1285_1289del5