Varaico: Literature-Extracted Genetic Variants

Gene:NDUFA9
Variant:p.G47V

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.G47V
c.140G>T
Surrounding Variants
1 paper
NM_005002.5
p.L36F
c.106C>T
2 papers
NM_005002.5
p.G63*
c.187G>T
1 paper
NM_005002.5
p.F64_L65delFs
c.190_194del5
1 paper
NM_005002.5
p.F64_N71del0
c.190_213del24
1 paper
NM_005002.5
p.L65insFs
c.193_194insA
1 paper
NM_005002.5
p.G66_V70delFs
c.198_208del11
1 paper
NM_005002.5
p.R75C
c.223C>T
3 papers
NM_005002.5
p.R75H
c.224G>A
1 paper
NM_005002.5
p.R75delFs
c.225delC
1 paper
NM_005002.5
p.G77R
c.229G>A
1 paper
NM_005002.5
p.G77R
c.229G>C
1 paper
NM_005002.5
p.Q79*
c.235C>T
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."