Varaico: Literature-Extracted Genetic Variants

Gene:NDUFAF7
Variant:p.I194N

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
2 papers
NM_144736.5
p.I194N
c.581T>A
Surrounding Variants
1 paper
NM_144736.5
p.I194I
c.582T>A
1 paper
NM_144736.5
p.P195_I196delFs
c.583_586del4
1 paper
NM_144736.5
p.P195insFs
c.583_584insGG
1 paper
NM_144736.5
p.P195fs
c.583_584fs
1 paper
NM_144736.5
p.P195L
c.584C>T
1 paper
NM_144736.5
p.P195P
c.585A>G
1 paper
NM_144736.5
p.G193fs
c.577_578fs
1 paper
NM_144736.5
p.I196_S197del1
c.587_589delTTT
1 paper
NM_144736.5
p.G193_I194delFs
c.577_580del4
2 papers
NM_144736.5
p.S192fs
c.574_575fs
1 paper
NM_144736.5
p.S192delFs
c.575delC
1 paper
NM_144736.5
p.S192_G193delFs
c.575_578del4
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