Varaico: Literature-Extracted Genetic Variants

Gene:NDUFA2
Variant:p.M1L

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.M1L
c.1A>T
Surrounding Variants
1 paper
NM_002488.5
p.M1L
c.1A>C
2 papers
NM_002488.5
p.M1T
c.2T>C
2 papers
NM_002488.5
p.M1I
c.3G>A
1 paper
NM_002488.5
p.A3A
c.9G>A
1 paper
NM_002488.5
p.G9E
c.26G>A
1 paper
NM_002488.5
p.V10F
c.28G>T
1 paper
NM_002488.5
p.K13N
c.39G>C
1 paper
NM_002488.5
p.G15D
c.44G>A
1 paper
NM_002488.5
p.E18G
c.53A>G
1 paper
NM_002488.5
p.G32S
c.94G>A
1 paper
NM_002488.5
p.F36L
c.106T>C
1 paper
NM_002488.5
p.F36L
c.108C>G
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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."