Varaico: Literature-Extracted Genetic Variants

Gene:NDUFA6
Variant:p.E111fs

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
3 papers
NM_002490.6
p.E111fs
c.331_332fs
Surrounding Variants
1 paper
NM_002490.6
p.T110I
c.329C>T
2 papers
NM_002490.6
p.E111delFs
c.331_332delTC
1 paper
NM_002490.6
p.P113L
c.338C>T
1 paper
NM_002490.6
p.H108Y
c.322C>T
1 paper
NM_002490.6
p.P115T
c.343C>A
4 papers
NM_002490.6
p.M104fs
c.310_311fs
1 paper
NM_002490.6
p.V103delFs
c.309delA
1 paper
NM_002490.6
p.H102_V103insFs
c.306_307insT
2 papers
NM_002490.6
p.L119fs
c.355_356fs
2 papers
NM_002490.6
p.L119delFs
c.355delG
1 paper
NM_002490.6
p.K121K
c.363G>A
1 paper
NM_002490.6
p.S120_K121delFs
c.359_362del4
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