Varaico: Literature-Extracted Genetic Variants

Gene:NDUFA1
Variant:p.R37S

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
13 papers
NM_004541.4
p.R37S
c.111G>T
Surrounding Variants
13 papers
NM_004541.4
p.R37S
c.111G>C
1 paper
NM_004541.4
p.R37G
c.109A>G
1 paper
NM_004541.4
p.V38V
c.114T>A
1 paper
NM_004541.4
p.A39T
c.115G>A
1 paper
NM_004541.4
p.F41L
c.121T>C
1 paper
NM_004541.4
p.F41L
c.123T>A
1 paper
NM_004541.4
p.F41L
c.123T>G
1 paper
NM_004541.4
p.G42R
c.124G>A
1 paper
NM_004541.4
p.G42R
c.124G>C
4 papers
NM_004541.4
p.R50K
c.149G>A
1 paper
NM_004541.4
p.R50I
c.149G>T
1 paper
NM_004541.4
p.D51_R52delFs
c.152_155del4
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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."