Varaico: Literature-Extracted Genetic Variants

Gene:NDUFA9
Variant:p.V253A

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.V253A
c.758T>C
Surrounding Variants
1 paper
NM_005002.5
p.D255V
c.764A>T
3 papers
NM_005002.5
p.D257A
c.770A>C
1 paper
NM_005002.5
p.G260A
c.779G>C
3 papers
NM_005002.5
p.V243I
c.727G>A
1 paper
NM_005002.5
p.A264_F265delFs
c.792_793delTT
1 paper
NM_005002.5
p.G267V
c.800G>T
1 paper
NM_005002.5
p.Y241C
c.722A>G
1 paper
NM_005002.5
p.Y241D
c.721T>G
1 paper
NM_005002.5
p.V240L
c.718G>C
1 paper
NM_005002.5
p.K237I
c.710A>T
1 paper
NM_005002.5
p.G224A
c.671G>C
1 paper
NM_005002.5
p.G267Splc
c.800+2164G>A
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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."