Varaico: Literature-Extracted Genetic Variants

Gene:NDUFB9
Variant:p.L27H

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.L27H
c.80T>A
Surrounding Variants
1 paper
NM_005005.3
p.W30_C31insFs
c.90_91insG
1 paper
NM_005005.3
p.W30C
c.90G>C
1 paper
NM_005005.3
p.A23G
c.68C>G
1 paper
NM_005005.3
p.C31Y
c.92G>A
1 paper
NM_005005.3
p.A23T
c.67G>A
1 paper
NM_005005.3
p.A23S
c.67G>T
1 paper
NM_005005.3
p.Y20C
c.59A>G
1 paper
NM_005005.3
p.H12N
c.34C>A
1 paper
NM_005005.3
p.L10V
c.28C>G
1 paper
NM_005005.3
p.L10L
c.28C>T
1 paper
NM_005005.3
p.Y9H
c.25T>C
1 paper
NM_005005.3
p.P8P
c.24C>T
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