Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS3
Variant:p.L84F

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.L84F
c.252A>T
Surrounding Variants
1 paper
NM_004551.3
p.L84F
c.252A>C
1 paper
NM_004551.3
p.F81S
c.242T>C
1 paper
NM_004551.3
p.V78A
c.233T>C
1 paper
NM_004551.3
p.Q77_V78Splc
c.232-1G>A
1 paper
NM_004551.3
p.G92G
c.276C>T
1 paper
NM_004551.3
p.L97P
c.290T>C
1 paper
NM_004551.3
p.N105N
c.315T>C
1 paper
NM_004551.3
p.D113_L114insFs
c.339_340insTT
1 paper
NM_004551.3
p.L114fs
c.340_341fs
1 paper
NM_004551.3
p.R122W
c.364C>T
1 paper
NM_004551.3
p.R122P
c.365G>C
2 papers
NM_004551.3
p.R125H
c.374G>A
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