Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS7
Variant:p.R172H

NDUFS7

140 papers

RefSeq Summary

This gene encodes a protein that is a subunit of one of the complexes that forms the mitochondrial respiratory chain. This protein is one of over 40 subunits found in complex I, the nicotinamide adeni...

Pfam Domains

Oxidored_q6aa 87–182UCSCNADH ubiquinone oxidoreductase, 20 Kd subunit

Gene Aliases

HGNC Name

NADH:ubiquinone oxidoreductase core subunit S7

HGNC Alias Symbols

PSST; FLJ46880; FLJ45860; CI-20

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024407.5
p.R172H
c.515G>A
Surrounding Variants
1 paper
NM_024407.5
p.D171N
c.511G>A
1 paper
NM_024407.5
p.G169V
c.506G>T
6 papers
NM_024407.5
p.R168S
c.504G>C
6 papers
NM_024407.5
p.R168S
c.504G>T
1 paper
NM_024407.5
p.G157G
c.471A>C
1 paper
NM_024407.5
p.G182Splc
c.545-525T>C
1 paper
NM_024407.5
p.S152Splc
c.455+71G>A
1 paper
NM_024407.5
p.T186M
c.557C>T
1 paper
NM_024407.5
p.A187_E188Fs
c.559_564delinsTAGATFs
1 paper
NM_024407.5
p.E188E
c.564G>A
1 paper
NM_024407.5
p.R199W
c.595A>T
1 paper
NM_024407.5
p.I201V
c.601A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."