Varaico: Literature-Extracted Genetic Variants

Gene:NDUFAF7
Variant:p.H320Q

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.H320Q
c.960T>G
Surrounding Variants
2 papers
NM_144736.5
p.H320Q
c.960T>A
1 paper
NM_144736.5
p.A325D
c.974C>A
1 paper
NM_144736.5
p.T332K
c.995C>A
1 paper
NM_144736.5
p.V335_D336ins7
c.1003_1007ins21
1 paper
NM_144736.5
p.Y339N
c.1015T>A
1 paper
NM_144736.5
p.R368L
c.1103G>T
1 paper
NM_144736.5
p.L369V
c.1105C>G
1 paper
NM_144736.5
p.S376_N377delFs
c.1127_1131del5
1 paper
NM_144736.5
p.S376fs
c.1126_1127fs
1 paper
NM_144736.5
p.R382W
c.1144A>T
1 paper
NM_144736.5
p.Q383insFs
c.1148dupA
1 paper
NM_144736.5
p.Q384fs
c.1150_1151fs
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