Varaico: Literature-Extracted Genetic Variants

Gene:NDUFB11
Variant:p.R134delFs

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
2 papers
NM_019056.7
p.R134delFs
c.402delC
Surrounding Variants
3 papers
NM_019056.7
p.R134fs
c.400_401fs
4 papers
NM_001135998.3
p.E121K
c.361G>A
1 paper
NM_019056.7
p.R130H
c.389G>A
3 papers
NM_001135998.3
p.A131T
c.391G>A
1 paper
NM_001135998.3
p.W117R
c.349T>C
1 paper
NM_001135998.3
p.R113M
c.338G>T
1 paper
NM_001135998.3
p.R113K
c.338G>A
1 paper
NM_001135998.3
p.R113K
c.338G>A
1 paper
NM_001135998.3
p.Y108_P110delFs
c.324_330del7
5 papers
NM_001135998.3
p.P110S
c.328C>T
6 papers
NM_001135998.3
p.Y108*
c.324T>G
6 papers
NM_001135998.3
p.Y108*
c.324T>A
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