Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS3
Variant:p.L150Q

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
Selected Variant
1 paper
NM_004551.3
p.L150Q
c.449T>A
Surrounding Variants
1 paper
NM_004551.3
p.L150_T151insCT
c.448_452ins6
1 paper
NM_004551.3
p.T151M
c.452C>T
1 paper
NM_004551.3
p.D148N
c.442G>A
1 paper
NM_004551.3
p.E154K
c.460G>A
1 paper
NM_004551.3
p.E154*
c.460G>T
16 papers
NM_004551.3
p.T145I
c.434C>T
1 paper
NM_004551.3
p.R142H
c.425G>A
2 papers
NM_004551.3
p.R142C
c.424C>T
3 papers
NM_004551.3
p.V159L
c.475G>C
2 papers
NM_004551.3
p.V159L
c.475G>T
1 paper
NM_004551.3
p.R140Q
c.419G>A
1 paper
NM_004551.3
p.R140P
c.419G>C
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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."