Varaico: Literature-Extracted Genetic Variants

Gene:NDUFA9
Variant:p.G267Splc

NDUFA9

115 papers

RefSeq Summary

The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mi...

Pfam Domains

Epimeraseaa 56–266UCSCNAD dependent epimerase/dehydratase family

Gene Aliases

HGNC Name

NADH:ubiquinone oxidoreductase subunit A9

HGNC Previous Symbol

NDUFS2L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005002.5
p.G267Splc
c.801-5143G>A
Surrounding Variants
1 paper
NM_005002.5
p.G267Splc
c.800+3334A>G
1 paper
NM_005002.5
p.G267Splc
c.800+2164G>A
2 papers
NM_005002.5
p.G267Splc
c.801-1G>C
1 paper
NM_005002.5
p.R270W
c.808C>T
1 paper
NM_005002.5
p.R270Q
c.809G>A
1 paper
NM_005002.5
p.Y271F
c.812A>T
5 papers
NM_005002.5
p.P294L
c.881C>T
1 paper
NM_005002.5
p.R299*
c.895C>T
1 paper
NM_005002.5
p.G267V
c.800G>T
1 paper
NM_005002.5
p.A264_F265delFs
c.792_793delTT
1 paper
NM_005002.5
p.G260A
c.779G>C
3 papers
NM_005002.5
p.D257A
c.770A>C
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