Varaico: Literature-Extracted Genetic Variants

Gene:NDUFA6
Variant:p.R60W

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
1 paper
NM_002490.6
p.R60W
c.178C>T
Surrounding Variants
1 paper
NM_002490.6
p.M58K
c.173T>A
1 paper
NM_002490.6
p.R60_D61delFs
c.178_182del5
1 paper
NM_002490.6
p.V56delFs
c.167delA
4 papers
NM_002490.6
p.R64P
c.191G>C
1 paper
NM_002490.6
p.T55A
c.163A>G
1 paper
NM_002490.6
p.T74T
c.222A>G
1 paper
NM_002490.6
p.T74delFs
c.221delG
1 paper
NM_002490.6
p.D75delFs
c.225delG
1 paper
NM_002490.6
p.V79V
c.237T>G
2 papers
NM_002490.6
p.D80N
c.238G>A
1 paper
NM_002490.6
p.V83V
c.249C>A
4 papers
NM_002490.6
p.E89*
c.265G>T
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