Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS4
Variant:p.K154fs

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
4 papers
NM_002495.4
p.K154fs
c.460_461fs
Surrounding Variants
13 papers
NM_002495.4
p.K154fs
c.460_461fs
24 papers
NM_002495.4
p.K154delFs
c.462delA
1 paper
NM_002495.4
p.K156_S157insFs
c.466_470dup5
1 paper
NM_002495.4
p.P155_K156delFs
c.465_466delCA
3 papers
NM_002495.4
p.K156_S157insFs
c.466_469dup4
1 paper
NM_002495.4
p.K156fs
c.466_467fs
1 paper
NM_002495.4
p.S157insFs
c.470dupC
1 paper
NM_002495.4
p.K158_S159insFs
c.472_476dup5
9 papers
NM_002495.4
p.K158fs
c.472_473fs
1 paper
NM_002495.4
p.E149*
c.445G>T
2 papers
NM_002495.4
p.Y160insFs
c.478dupT
1 paper
NM_002495.4
p.E148K
c.442G>A
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