Varaico: Literature-Extracted Genetic Variants

Gene:BNIP3
Variant:p.H173L

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.H173L
c.518A>T
Surrounding Variants
1 paper
NM_004052.4
p.S172A
c.514T>G
1 paper
NM_004052.4
p.S172T
c.514T>A
1 paper
NM_004052.4
p.A176V
c.527C>T
1 paper
NM_004052.4
p.I177L
c.529A>C
1 paper
NM_004052.4
p.G178A
c.533G>C
1 paper
NM_004052.4
p.S158C
c.473C>G
1 paper
NM_004052.4
p.L133_F134delFs
c.398_401del4
1 paper
NM_004052.4
p.R123Q
c.368G>A
1 paper
NM_004052.4
p.I117V
c.349A>G
1 paper
NM_004052.4
p.I109F
c.325A>T
4 papers
NM_004052.4
p.G180A
c.539G>C
1 paper
NM_004052.4
p.I181insFs
c.543dupC
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."