Varaico: Literature-Extracted Genetic Variants

Gene:NDUFB9
Variant:p.F48C

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.F48C
c.143T>G
Surrounding Variants
5 papers
NM_005005.3
p.R47L
c.140G>T
1 paper
NM_005005.3
p.H51R
c.152A>G
1 paper
NM_005005.3
p.M44I
c.132G>A
1 paper
NM_005005.3
p.M44I
c.132G>C
1 paper
NM_005005.3
p.M44I
c.132G>T
1 paper
NM_005005.3
p.N53N
c.159T>C
1 paper
NM_005005.3
p.E54V
c.161A>T
1 paper
NM_005005.3
p.K55R
c.164A>G
1 paper
NM_005005.3
p.Q62*
c.184C>T
7 papers
NM_005005.3
p.L64P
c.191T>C
1 paper
NM_005005.3
p.E68G
c.203A>G
1 paper
NM_005005.3
p.E70*
c.208G>T
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