Varaico: Literature-Extracted Genetic Variants

Gene:NDUFB5
Variant:p.Y133H

NDUFB5

25 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_B5aa 1–189UCSCNADH:ubiquinone oxidoreductase, NDUFB5/SGDH subunit

Gene Aliases

HGNC Name

NADH:ubiquinone oxidoreductase subunit B5

HGNC Alias Symbols

SGDH; CI-SGDH; MGC12314

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_002492.4
p.Y133H
c.397T>C
Surrounding Variants
1 paper
NM_002492.4
p.K146K
c.438G>A
1 paper
NM_002492.4
p.H115N
c.343C>A
1 paper
NM_002492.4
p.Y105F
c.314A>T
1 paper
NM_002492.4
p.G104G
c.312C>T
1 paper
NM_002492.4
p.V89A
c.266T>C
1 paper
NM_002492.4
p.V89L
c.265G>T
1 paper
NM_002492.4
p.I75delFs
c.225delT
1 paper
NM_002492.4
p.R150Splc
c.450-2606G>A
1 paper
NM_002492.4
p.L70*
c.209T>A
1 paper
NM_002492.4
p.L70*
c.209T>G
1 paper
NM_002492.4
p.L70L
c.208T>C
1 paper
NM_002492.4
p.R157Q
c.470G>A
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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."