Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS3
Variant:p.R8S

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.R8S
c.24G>C
Surrounding Variants
1 paper
NM_004551.3
p.R8S
c.24G>T
2 papers
NM_004551.3
p.L9_W10ins5
c.25_29ins15
1 paper
NM_004551.3
p.V6fs
c.16_17fs
3 papers
NM_004551.3
p.A5V
c.14C>T
1 paper
NM_004551.3
p.M1I
c.3G>A
2 papers
NM_004551.3
p.A3_A4insFs
c.9_10ins5
1 paper
NM_004551.3
p.M1_A2insFs
c.3_4insTA
1 paper
NM_004551.3
p.M1T
c.2T>C
2 papers
NM_004551.3
p.M1R
c.2T>G
1 paper
NM_004551.3
p.P27S
c.79C>T
2 papers
NM_004551.3
p.T43A
c.127A>G
1 paper
NM_004551.3
p.P49R
c.146C>G
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