Varaico: Literature-Extracted Genetic Variants

Gene:NDUFA1
Variant:p.G32R

NDUFA1

68 papers

RefSeq Summary

The human NDUFA1 gene codes for an essential component of complex I of the respiratory chain, which transfers electrons from NADH to ubiquinone. It has been noted that the N-terminal hydrophobic domai...

Pfam Domains

MWFEaa 2–56UCSCNADH-ubiquinone oxidoreductase MWFE subunit

Gene Aliases

HGNC Name

NADH:ubiquinone oxidoreductase subunit A1

HGNC Alias Symbols

MWFE; CI-MWFE

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
27 papers
NM_004541.4
p.G32R
c.94G>A
Surrounding Variants
28 papers
NM_004541.4
p.G32R
c.94G>C
1 paper
NM_004541.4
p.T30S
c.89C>G
1 paper
NM_004541.4
p.T30S
c.88A>T
1 paper
NM_004541.4
p.T23T
c.69T>G
10 papers
NM_004541.4
p.P19S
c.55C>T
3 papers
NM_004541.4
p.I18F
c.52A>T
1 paper
NM_004541.4
p.L16F
c.48G>C
1 paper
NM_004541.4
p.L16F
c.48G>T
1 paper
NM_004541.4
p.C15Y
c.44G>A
1 paper
NM_004541.4
p.S10P
c.28T>C
16 papers
NM_004541.4
p.G8R
c.22G>A
16 papers
NM_004541.4
p.G8R
c.22G>C
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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."