Varaico: Literature-Extracted Genetic Variants

Gene:NDUFB11
Variant:p.K78R

NDUFB11

58 papers

RefSeq Summary

The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is located at the mitochondrial inner membrane. This protein has NADH ...

Pfam Domains

ESSSaa 22–141UCSCESSS subunit of NADH:ubiquinone oxidoreductase (complex I)

Gene Aliases

HGNC Name

NADH:ubiquinone oxidoreductase subunit B11

HGNC Alias Symbols

ESSS; NP17.3; Np15

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001135998.3
p.K78R
c.233A>G
Surrounding Variants
1 paper
NM_001135998.3
p.K78_D79del1
c.233_235delCCT
1 paper
NM_001135998.3
p.G75delFs
c.225delA
5 papers
NM_001135998.3
p.W85*
c.254G>A
5 papers
NM_001135998.3
p.W85*
c.255G>A
10 papers
NM_001135998.3
p.R88*
c.262C>T
8 papers
NM_001135998.3
p.F92_F93del1
c.276_278delAAG
8 papers
NM_001135998.3
p.F93del1
c.277_278delAAA
3 papers
NM_001135998.3
p.S96P
c.286T>C
6 papers
NM_001135998.3
p.Y108*
c.324T>G
6 papers
NM_001135998.3
p.Y108*
c.324T>A
5 papers
NM_001135998.3
p.P110S
c.328C>T
1 paper
NM_001135998.3
p.Y108_P110delFs
c.324_330del7
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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."