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.L412_V413insFs

c.1236_1237insT

Surrounding Variants

1 paper

NM_001165.5

p.L412L

c.1234C>T

1 paper

NM_001165.5

p.V413V

c.1239C>A

1 paper

NM_001165.5

p.R411K

c.1232G>A

1 paper

NM_001165.5

p.D415_L416delFs

c.1245_1248del4

2 papers

NM_001165.5

p.E408K

c.1222G>A

1 paper

NM_001165.5

p.G407fs

c.1219_1220fs

1 paper

NM_001165.5

p.G407delFs

c.1220_1221delGA

1 paper

NM_001165.5

p.T406S

c.1217C>G

1 paper

NM_001165.5

p.D419G

c.1256A>G

1 paper

NM_001165.5

p.L420L

c.1258T>C

1 paper

NM_001165.5

p.L421_N422delFs

c.1261_1264del4

1 paper

NM_001165.5

p.L421fs

c.1261_1262fs