Varaico: Literature-Extracted Genetic Variants

Gene:NDUFA2
Variant:p.N76fs

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
5 papers
NM_002488.5
p.N76fs
c.226_227fs
Surrounding Variants
5 papers
NM_002488.5
p.T75delFs
c.225delC
1 paper
NM_002488.5
p.T75fs
c.223_224fs
1 paper
NM_002488.5
p.T75T
c.225G>A
1 paper
NM_002488.5
p.T75R
c.224C>G
1 paper
NM_002488.5
p.V77L
c.229G>C
1 paper
NM_002488.5
p.L79F
c.237G>T
1 paper
NM_002488.5
p.L79F
c.237G>C
1 paper
NM_002488.5
p.D85D
c.255T>C
2 papers
NM_002488.5
p.V94I
c.280G>A
1 paper
NM_002488.5
p.L95I
c.283C>A
1 paper
NM_002488.5
p.G97S
c.289G>A
8 papers
NM_002488.5
p.A70Splc
c.208+5G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."