Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS3

NDUFS3

131 papers

RefSeq Summary

This gene encodes one of the iron-sulfur protein (IP) components of mitochondrial NADH:ubiquinone oxidoreductase (complex I). Mutations in this gene are associated with Leigh syndrome resulting from m...

Pfam Domains

Complex1_30kDaaa 86–208UCSCRespiratory-chain NADH dehydrogenase, 30 Kd subunit

Gene Aliases

HGNC Name

NADH:ubiquinone oxidoreductase core subunit S3

HGNC Alias Symbol

CI-30

Papers
RefSeq ID
Protein change
DNA change
1–12 of 75 variants
29 papers
NM_004551.3
p.R199W
c.595C>T
16 papers
NM_004551.3
p.T145I
c.434C>T
11 papers
NM_004551.3
p.R140W
c.418C>T
3 papers
NM_004551.3
p.A5V
c.14C>T
3 papers
NM_004551.3
p.V159L
c.475G>C
2 papers
NM_004551.3
p.M1R
c.2T>G
2 papers
NM_004551.3
p.A3_A4insFs
c.9_10ins5
2 papers
NM_004551.3
p.L9_W10ins5
c.25_29ins15
2 papers
NM_004551.3
p.T43A
c.127A>G
2 papers
NM_004551.3
p.R125H
c.374G>A
2 papers
NM_004551.3
p.R142C
c.424C>T
2 papers
NM_004551.3
p.V159L
c.475G>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."