Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS7
Variant:p.K136_V137Splc

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.K136_V137Splc
c.408+10G>T
Surrounding Variants
2 papers
NM_024407.5
p.R135C
c.403C>T
1 paper
NM_024407.5
p.L126F
c.376C>T
1 paper
NM_024407.5
p.G124S
c.370G>A
39 papers
NM_024407.5
p.V122M
c.364G>A
1 paper
NM_024407.5
p.V122ins3
c.364_365ins9
1 paper
NM_024407.5
p.V137I
c.409G>A
2 papers
NM_024407.5
p.D139N
c.415G>A
1 paper
NM_024407.5
p.D139E
c.417C>A
1 paper
NM_024407.5
p.D139E
c.417C>G
1 paper
NM_024407.5
p.R115S
c.343C>A
2 papers
NM_024407.5
p.P144L
c.431C>T
1 paper
NM_024407.5
p.R145C
c.433C>T
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