Varaico: Literature-Extracted Genetic Variants

Gene:BNIP3
Variant:p.G16insFs

BNIP3

52 papers

RefSeq Summary

This gene is encodes a mitochondrial protein that contains a BH3 domain and acts as a pro-apoptotic factor. The encoded protein interacts with anti-apoptotic proteins, including the E1B 19 kDa protein...

Pfam Domains

BNIP3aa 10–194UCSCBNIP3

Gene Aliases

HGNC Name

BCL2 interacting protein 3

HGNC Alias Symbols

Nip3; HABON

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004052.4
p.G16insFs
c.47dupG
Surrounding Variants
1 paper
NM_004052.4
p.V19insFs
c.56dupT
1 paper
NM_004052.4
p.L21L
c.63G>A
1 paper
NM_004052.4
p.G29V
c.86G>T
1 paper
NM_004052.4
p.Y39D
c.115T>G
1 paper
NM_004052.4
p.I38insFs
c.113dupT
1 paper
NM_004052.4
p.E44A
c.131A>C
1 paper
NM_004052.4
p.S58N
c.173G>A
3 papers
NM_004052.4
p.K60K
c.180G>A
1 paper
NM_004052.4
p.S66Splc
c.197+7G>A
1 paper
NM_004052.4
p.P68P
c.204T>A
1 paper
NM_004052.4
p.S70A
c.208T>G
1 paper
NM_004052.4
p.S70W
c.209C>G
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