Varaico: Literature-Extracted Genetic Variants

Gene:NDUFA9
Variant:p.R321P

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
8 papers
NM_005002.5
p.R321P
c.962G>C
Surrounding Variants
1 paper
NM_005002.5
p.T315R
c.944C>G
1 paper
NM_005002.5
p.I314M
c.942A>G
1 paper
NM_005002.5
p.E336K
c.1006G>A
1 paper
NM_005002.5
p.R354G
c.1060C>G
3 papers
NM_005002.5
p.R354Q
c.1061G>A
1 paper
NM_005002.5
p.H356Y
c.1066C>T
1 paper
NM_005002.5
p.R357G
c.1069C>G
1 paper
NM_005002.5
p.R360G
c.1078C>G
7 papers
NM_005002.5
p.R360C
c.1078C>T
2 papers
NM_005002.5
p.R360H
c.1079G>A
1 paper
NM_005002.5
p.R360L
c.1079G>T
1 paper
NM_005002.5
p.P371L
c.1112C>T
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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."