Varaico: Literature-Extracted Genetic Variants

BIRC7

52 papers

RefSeq Summary

This gene encodes a member of the inhibitor of apoptosis protein (IAP) family, and contains a single copy of a baculovirus IAP repeat (BIR) as well as a RING-type zinc finger domain. The BIR domain is...

Pfam Domains

BIRaa 90–155UCSCInhibitor of Apoptosis domain

zf-C3HC4_3aa 248–292UCSCZinc finger, C3HC4 type (RING finger)

Gene Aliases

HGNC Name

baculoviral IAP repeat containing 7

HGNC Alias Symbols

mliap; ML-IAP; KIAP; RNF50

Papers

RefSeq ID

Protein change

DNA change

1–12 of 42 variants

2 papers

NM_139317.3

p.G2G

c.6A>G

2 papers

NM_139317.3

p.L42M

c.124C>A

2 papers

NM_139317.3

p.E102A

c.305A>C

2 papers

NM_139317.3

p.D120A

c.359A>C

2 papers

NM_139317.3

p.H164R

c.491A>G

2 papers

NM_139317.3

p.S176S

c.528C>T

2 papers

NM_139317.3

p.V254A

c.761T>C

1 paper

NM_139317.3

p.K4E

c.10A>G

1 paper

NM_139317.3

p.S34A

c.100T>G

1 paper

NM_139317.3

p.G41R

c.121G>C

1 paper

NM_139317.3

p.V51M

c.151G>A

1 paper

NM_139317.3

p.D52A

c.155A>C