Varaico: Literature-Extracted Genetic Variants

Gene:NDUFB9
Variant:p.S132N

NDUFB9

84 papers

RefSeq Summary

The protein encoded by this gene is a subunit of the mitochondrial oxidative phosphorylation complex I (nicotinamide adenine dinucleotide: ubiquinone oxidoreductase). Complex I is localized to the inn...

Pfam Domains

Complex1_LYRaa 14–73UCSCComplex 1 protein (LYR family)

Gene Aliases

HGNC Name

NADH:ubiquinone oxidoreductase subunit B9

HGNC Alias Symbols

B22; UQOR22; LYRM3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005005.3
p.S132N
c.395G>A
Surrounding Variants
1 paper
NM_005005.3
p.R135*
c.403C>T
1 paper
NM_005005.3
p.A120V
c.359C>T
1 paper
NM_005005.3
p.Y115H
c.343T>C
1 paper
NM_005005.3
p.E136_V137Splc
c.408+61C>T
1 paper
NM_005005.3
p.W107C
c.321G>T
1 paper
NM_001278645.2
p.C47G
c.139T>G
2 papers
NM_005005.3
p.E101*
c.301G>T
1 paper
NM_005005.3
p.E136_V137Splc
c.409-1G>A
1 paper
NM_005005.3
p.E142K
c.424G>A
1 paper
NM_005005.3
p.T144P
c.430A>C
1 paper
NM_005005.3
p.T144M
c.431C>T
3 papers
NM_005005.3
p.P146S
c.436C>T
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