Varaico: Literature-Extracted Genetic Variants

Gene:NDUFA2
Variant:p.Y69C

NDUFA2

47 papers

RefSeq Summary

The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex 1), the first enzyme complex in the electron transport chain located in the inner mi...

Pfam Domains

L51_S25_CI-B8aa 33–84UCSCMitochondrial ribosomal protein L51 / S25 / CI-B8 domain

Gene Aliases

HGNC Name

NADH:ubiquinone oxidoreductase subunit A2

HGNC Alias Symbol

B8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002488.5
p.Y69C
c.206A>G
Surrounding Variants
2 papers
NM_002488.5
p.A70T
c.208G>A
8 papers
NM_002488.5
p.A70Splc
c.208+5G>A
1 paper
NM_002488.5
p.W66C
c.198G>T
1 paper
NM_002488.5
p.W66C
c.198G>C
2 papers
NM_002488.5
p.K64R
c.191A>G
1 paper
NM_002488.5
p.P63L
c.188C>T
2 papers
NM_002488.5
p.E57A
c.170A>C
3 papers
NM_002488.5
p.D50N
c.148G>A
8 papers
NM_002488.5
p.K45T
c.134A>C
1 paper
NM_002488.5
p.L44L
c.132G>A
1 paper
NM_002488.5
p.F36L
c.108C>G
1 paper
NM_002488.5
p.F36L
c.108C>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."