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.G127C

c.379G>T

Surrounding Variants

1 paper

NM_001165.5

p.G127R

c.379G>C

1 paper

NM_001165.5

p.N130K

c.390C>A

1 paper

NM_001165.5

p.G132*

c.394G>T

1 paper

NM_001165.5

p.G132A

c.395G>C

3 papers

NM_001165.5

p.R135C

c.403C>T

1 paper

NM_001165.5

p.G136D

c.407G>A

1 paper

NM_001165.5

p.S116*

c.347C>A

1 paper

NM_001165.5

p.S116*

c.347C>G

1 paper

NM_001165.5

p.N140_S143del4

c.418_428del12

1 paper

NM_001165.5

p.S139A

c.415T>G

1 paper

NM_001165.5

p.F113C

c.338T>G

1 paper

NM_001165.5

p.P142L

c.425C>T