Varaico: Literature-Extracted Genetic Variants

Gene:BIRC3
Variant:p.E429fs

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
5 papers
NM_001165.5
p.E429fs
c.1285_1286fs
Surrounding Variants
2 papers
NM_001165.5
p.E429insFs
c.1287dupA
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
1 paper
NM_001165.5
p.E430insFs
c.1288_1289insG
1 paper
NM_001165.5
p.E429_E430del2
c.1285_1289del6
3 papers
NM_001165.5
p.R428insFs
c.1283dupG
1 paper
NM_001165.5
p.R428fs
c.1282_1283fs
2 papers
NM_001165.5
p.E429delFs
c.1285delG
1 paper
NM_001165.5
p.R428fs
c.1282_1283fs
1 paper
NM_001165.5
p.E430fs
c.1288_1289fs
2 papers
NM_001165.5
p.E430fs
c.1288_1289fs
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