Varaico: Literature-Extracted Genetic Variants

Gene:NDUFB6
Variant:p.Y4*

NDUFB6

62 papers

RefSeq Summary

The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial ...

Pfam Domains

NDUF_B6aa 1–128UCSCNADH:ubiquinone oxidoreductase, NDUFB6/B17 subunit

Gene Aliases

HGNC Name

NADH:ubiquinone oxidoreductase subunit B6

HGNC Alias Symbols

B17; CI

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002493.5
p.Y4*
c.12C>A
Surrounding Variants
1 paper
NM_002493.5
p.M1I
c.3G>A
1 paper
NM_002493.5
p.E8V
c.23A>T
1 paper
NM_002493.5
p.R11W
c.31C>T
1 paper
NM_002493.5
p.R11Q
c.32G>A
1 paper
NM_002493.5
p.R16Q
c.47G>A
1 paper
NM_002493.5
p.R21Q
c.62G>A
1 paper
NM_002493.5
p.W22R
c.64T>C
1 paper
NM_002493.5
p.W22R
c.64T>A
1 paper
NM_002493.5
p.D25N
c.73G>A
1 paper
NM_002493.5
p.Q26E
c.76C>G
1 paper
NM_002493.5
p.R31G
c.91C>G
2 papers
NM_002493.5
p.P42L
c.125C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."