Varaico: Literature-Extracted Genetic Variants

Gene:NDUFA6
Variant:p.E27E

NDUFA6

67 papers

RefSeq Summary

This gene encodes a member of the LYR family of proteins that contain a highly conserved tripeptide (LYR) motif near the N-terminus. The encoded protein is an accessory subunit of NADH: ubiquinone oxi...

Pfam Domains

Complex1_LYR_2aa 32–114UCSCComplex1_LYR-like

Gene Aliases

HGNC Name

NADH:ubiquinone oxidoreductase subunit A6

HGNC Alias Symbols

B14; LYRM6; CI-B14; NADHB14

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_002490.6
p.E27E
c.81G>A
Surrounding Variants
1 paper
NM_002490.6
p.K29delFs
c.87delC
1 paper
NM_002490.6
p.R30Q
c.89G>A
1 paper
NM_002490.6
p.V32M
c.94G>A
1 paper
NM_002490.6
p.R23Q
c.68G>A
1 paper
NM_002490.6
p.V32G
c.95T>G
1 paper
NM_002490.6
p.R33P
c.98G>C
1 paper
NM_002490.6
p.K18R
c.53A>G
1 paper
NM_002490.6
p.Y40F
c.119A>T
4 papers
NM_002490.6
p.A9V
c.26C>T
1 paper
NM_002490.6
p.V6I
c.16G>A
1 paper
NM_002490.6
p.G5insFs
c.14_15insA
1 paper
NM_002490.6
p.S4R
c.10A>C
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