Varaico: Literature-Extracted Genetic Variants

Gene:NDUFAF7
Variant:p.I57delFs

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.I57delFs
c.169_170delAT
Surrounding Variants
1 paper
NM_144736.5
p.I51V
c.151A>G
1 paper
NM_144736.5
p.T68S
c.202A>T
1 paper
NM_144736.5
p.T68S
c.203C>G
1 paper
NM_144736.5
p.P70A
c.208C>G
1 paper
NM_144736.5
p.P42S
c.124C>T
1 paper
NM_144736.5
p.P39A
c.115C>G
1 paper
NM_144736.5
p.G32V
c.95G>T
1 paper
NM_144736.5
p.G32R
c.94G>A
1 paper
NM_144736.5
p.G26V
c.77G>T
1 paper
NM_144736.5
p.A19V
c.56C>T
1 paper
NM_144736.5
p.A19V
c.56C>T
1 paper
NM_144736.5
p.R17H
c.50G>A
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