Varaico: Literature-Extracted Genetic Variants

Gene:NDUFAF7
Variant:p.E163insFs

NDUFAF7

47 papers

RefSeq Summary

This gene encodes an assembly factor protein which helps in the assembly and stabilization of Complex I, a large multi-subunit enzyme in the mitochondrial respiratory chain. Complex I is involved in s...

Pfam Domains

Methyltransf_28aa 100–354UCSCPutative S-adenosyl-L-methionine-dependent methyltransferase

Gene Aliases

HGNC Name

NADH:ubiquinone oxidoreductase complex assembly factor 7

HGNC Previous Symbol

C2orf56

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_144736.5
p.E163insFs
c.488_489ins10
Surrounding Variants
1 paper
NM_144736.5
p.Q165_A166delFs
c.494_497del4
1 paper
NM_144736.5
p.T168insFs
c.502_503insGG
1 paper
NM_144736.5
p.T168I
c.503C>T
1 paper
NM_144736.5
p.T168T
c.504A>G
1 paper
NM_144736.5
p.L169_T170del2
c.505_509del6
1 paper
NM_144736.5
p.L169_T170del1
c.506_508delTGA
1 paper
NM_144736.5
p.K171_E172delFs
c.511_514del4
1 paper
NM_144736.5
p.P175P
c.525G>A
1 paper
NM_144736.5
p.R178*
c.532C>T
1 paper
NM_144736.5
p.C148S
c.443G>C
1 paper
NM_144736.5
p.C148S
c.442T>A
1 paper
NM_144736.5
p.Y185F
c.554A>T
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