Varaico: Literature-Extracted Genetic Variants

Gene:NDUFB7
Variant:p.E38Splc

NDUFB7

85 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 is located at the mitochondri...

Pfam Domains

NDUF_B7aa 40–102UCSCNADH-ubiquinone oxidoreductase B18 subunit (NDUFB7)

Gene Aliases

HGNC Name

NADH:ubiquinone oxidoreductase subunit B7

HGNC Alias Symbols

B18; CI-B18; MGC2480

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_004146.6
p.E38Splc
c.113-10C>G
Surrounding Variants
1 paper
NM_004146.6
p.M39L
c.115A>T
1 paper
NM_004146.6
p.M39L
c.115A>C
1 paper
NM_004146.6
p.E45del1
c.133_135delCTC
1 paper
NM_004146.6
p.M46I
c.138G>T
1 paper
NM_004146.6
p.M46I
c.138G>C
1 paper
NM_004146.6
p.M46I
c.138G>A
1 paper
NM_004146.6
p.D48V
c.143A>T
1 paper
NM_004146.6
p.A49G
c.146C>G
1 paper
NM_004146.6
p.H62Q
c.186C>G
1 paper
NM_004146.6
p.H62Q
c.186C>A
1 paper
NM_004146.6
p.K70E
c.208A>G
1 paper
NM_004146.6
p.N76fs
c.226_227fs
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."