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.T601R

c.1802C>G

Surrounding Variants

1 paper

NM_001165.5

p.T601P

c.1801A>C

1 paper

NM_001165.5

p.F602C

c.1805T>G

2 papers

NM_001165.5

p.R600fs

c.1798_1799fs

1 paper

NM_001165.5

p.V599D

c.1796T>A

2 papers

NM_001165.5

p.L603P

c.1808T>C

1 paper

NM_001165.5

p.V599fs

c.1795_1796fs

2 papers

NM_001165.5

p.V599_R600delFs

c.1795_1798del4

1 paper

NM_001165.5

p.V599_F602delFs

c.1795_1805del11

2 papers

NM_001165.5

p.S604P

c.1810T>C

1 paper

NM_001165.5

p.T598fs

c.1792_1793fs

1 paper

NM_001165.5

p.*605R

c.1813T>C

1 paper

NM_001165.5

p.K596N

c.1788G>C