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.A107P

c.319G>C

Surrounding Variants

1 paper

NM_001165.5

p.A107D

c.320C>A

1 paper

NM_001165.5

p.L105S

c.314T>C

1 paper

NM_001165.5

p.P111P

c.333T>A

1 paper

NM_001165.5

p.V102F

c.304G>T

1 paper

NM_001165.5

p.F113C

c.338T>G

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.V96A

c.287T>C

1 paper

NM_001165.5

p.S92R

c.276C>A

1 paper

NM_001165.5

p.S92R

c.276C>G

1 paper

NM_001165.5

p.S92I

c.275G>T

1 paper

NM_001165.5

p.S92R

c.274A>C