Varaico: Literature-Extracted Genetic Variants

Gene:NDUFA9
Variant:p.K137Splc

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.K137Splc
c.411-9A>T
Surrounding Variants
1 paper
NM_005002.5
p.E142G
c.425A>G
1 paper
NM_005002.5
p.V144delFs
c.430delG
1 paper
NM_005002.5
p.G160R
c.478G>A
1 paper
NM_005002.5
p.G160R
c.478G>C
1 paper
NM_005002.5
p.V161I
c.481G>A
1 paper
NM_005002.5
p.L170M
c.508C>A
1 paper
NM_005002.5
p.N173S
c.518A>G
1 paper
NM_005002.5
p.S177delFs
c.529delT
1 paper
NM_005002.5
p.K184_A185Splc
c.552+11A>C
1 paper
NM_005002.5
p.K137I
c.410A>T
1 paper
NM_005002.5
p.R132R
c.396A>G
2 papers
NM_005002.5
p.R132*
c.394C>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."