Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS7
Variant:p.K48E

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.K48E
c.142A>G
Surrounding Variants
1 paper
NM_024407.5
p.T42S
c.125C>G
1 paper
NM_024407.5
p.T42S
c.124A>T
2 papers
NM_024407.5
p.R59W
c.175C>T
1 paper
NM_024407.5
p.G60S
c.178G>A
2 papers
NM_024407.5
p.G60D
c.179G>A
1 paper
NM_024407.5
p.A74delFs
c.221delC
1 paper
NM_024407.5
p.R75C
c.223C>T
1 paper
NM_024407.5
p.R75delFs
c.225delC
1 paper
NM_024407.5
p.G38G
c.114C>G
1 paper
NM_024407.5
p.Q32R
c.95A>G
4 papers
NM_024407.5
p.P23L
c.68C>T
1 paper
NM_024407.5
p.R76_S77Splc
c.228+580C>A
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