Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS4
Variant:p.D119H

NDUFS4

168 papers

RefSeq Summary

This gene encodes an nuclear-encoded accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I, or NADH:ubiquinone oxidoreductase). Complex I removes electrons fr...

Pfam Domains

NDUS4aa 76–170UCSCNADH dehydrogenase ubiquinone Fe-S protein 4

Gene Aliases

HGNC Name

NADH:ubiquinone oxidoreductase subunit S4

HGNC Alias Symbols

AQDQ; CI-18

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
13 papers
NM_002495.4
p.D119H
c.355G>C
Surrounding Variants
1 paper
NM_002495.4
p.D119N
c.355G>A
1 paper
NM_002495.4
p.T117Splc
c.351-1G>A
3 papers
NM_002495.4
p.T117Splc
c.351-2A>G
1 paper
NM_002495.4
p.N123K
c.369C>A
1 paper
NM_002495.4
p.N123K
c.369C>G
1 paper
NM_002495.4
p.T127I
c.380C>T
4 papers
NM_002495.4
p.K131insFs
c.393dupA
1 paper
NM_002495.4
p.K131fs
c.391_392fs
3 papers
NM_002495.4
p.E132fs
c.394_395fs
1 paper
NM_002495.4
p.A134G
c.401C>G
1 paper
NM_002495.4
p.A138V
c.413C>T
1 paper
NM_002495.4
p.E139delFs
c.416delA
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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."