Varaico: Literature-Extracted Genetic Variants

Gene:NDUFA7
Variant:p.A75delFs

NDUFA7

32 papers

RefSeq Summary

This gene encodes a subunit of NADH:ubiquinone oxidoreductase (complex I), which is a multiprotein complex located in the inner mitochondrial membrane. Complex I functions in the transfer of electrons...

Pfam Domains

CI-B14_5aaa 5–102UCSCNADH:ubiquinone oxidoreductase subunit B14.5a (Complex I-B14.5a)

Gene Aliases

HGNC Name

NADH:ubiquinone oxidoreductase subunit A7

HGNC Alias Symbol

B14.5a

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005001.5
p.A75delFs
c.225delC
Surrounding Variants
1 paper
NM_005001.5
p.L76P
c.227T>C
1 paper
NM_005001.5
p.S71L
c.212C>T
5 papers
NM_005001.5
p.P66A
c.196C>G
1 paper
NM_005001.5
p.K48N
c.144G>T
2 papers
NM_005001.5
p.K48Q
c.142A>C
1 paper
NM_005001.5
p.L41L
c.123C>T
1 paper
NM_005001.5
p.R34Splc
c.102-1G>A
1 paper
NM_005001.5
p.Y28F
c.83A>T
1 paper
NM_005001.5
p.K23fs
c.67_68fs
1 paper
NM_005001.5
p.G22insFs
c.66dupG
1 paper
NM_005001.5
p.H18R
c.53A>G
1 paper
NM_005001.5
p.H18Y
c.52C>T
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