Varaico: Literature-Extracted Genetic Variants

Gene:NDUFB7
Variant:p.A3A

NDUFB7

85 papers

RefSeq Summary

The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It is located at the mitochondri...

Pfam Domains

NDUF_B7aa 40–102UCSCNADH-ubiquinone oxidoreductase B18 subunit (NDUFB7)

Gene Aliases

HGNC Name

NADH:ubiquinone oxidoreductase subunit B7

HGNC Alias Symbols

B18; CI-B18; MGC2480

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_004146.6
p.A3A
c.9C>G
Surrounding Variants
2 papers
NM_004146.6
p.H4Q
c.12C>A
1 paper
NM_004146.6
p.L5V
c.13C>G
1 paper
NM_004146.6
p.M1I
c.3G>A
1 paper
NM_004146.6
p.M1T
c.2T>C
1 paper
NM_004146.6
p.V6L
c.16G>C
1 paper
NM_004146.6
p.L10fs
c.28_29fs
1 paper
NM_004146.6
p.L10L
c.30G>C
1 paper
NM_004146.6
p.D12N
c.34G>A
1 paper
NM_004146.6
p.D12E
c.36T>A
1 paper
NM_004146.6
p.L10_S14delFs
c.30_40del11
1 paper
NM_004146.6
p.P19S
c.55C>T
1 paper
NM_004146.6
p.P19insFs
c.55dupC
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