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

1–12 of 480 variants

14 papers

NM_001165.5

p.R401K

c.1202G>A

9 papers

NM_001165.5

p.Q547delFs

c.1639delC

9 papers

NM_001165.5

p.Q547fs

c.1639_1640fs

6 papers

NM_001165.5

p.Q547fs

c.1639_1640fs

5 papers

NM_001165.5

p.K260R

c.779A>G

5 papers

NM_001165.5

p.V386M

c.1156G>A

5 papers

NM_001165.5

p.E429fs

c.1285_1286fs

5 papers

NM_001165.5

p.R434fs

c.1300_1301fs

5 papers

NM_001165.5

p.S540*

c.1619C>A

5 papers

NM_001165.5

p.S540*

c.1619C>G

5 papers

NM_001165.5

p.T556delFs

c.1667delC

4 papers

NM_001165.5

p.R428_E430delFs

c.1284_1288del5