Varaico: Literature-Extracted Genetic Variants

Gene:NDUFAF2
Variant:p.M1T

NDUFAF2

65 papers

RefSeq Summary

NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the transloca...

Pfam Domains

NDUFA12aa 20–128UCSCNADH ubiquinone oxidoreductase subunit NDUFA12

Gene Aliases

HGNC Name

NADH:ubiquinone oxidoreductase complex assembly factor 2

HGNC Previous Symbol

NDUFA12L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_174889.5
p.M1T
c.2T>C
Surrounding Variants
9 papers
NM_174889.5
p.M1L
c.1A>C
10 papers
NM_174889.5
p.M1L
c.1A>T
4 papers
NM_174889.5
p.W3*
c.8G>A
4 papers
NM_174889.5
p.W3*
c.9G>A
1 paper
NM_174889.5
p.A10D
c.29C>A
1 paper
NM_174889.5
p.L11L
c.33G>A
1 paper
NM_174889.5
p.L15R
c.44T>G
1 paper
NM_174889.5
p.K20K
c.60G>A
1 paper
NM_174889.5
p.E21G
c.62A>G
1 paper
NM_174889.5
p.N30S
c.89A>G
1 paper
NM_174889.5
p.K31T
c.92A>C
1 paper
NM_174889.5
p.Y32C
c.95A>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."