Varaico: Literature-Extracted Genetic Variants

Gene:NDUFC1

NDUFC1

10 papers

RefSeq Summary

The encoded protein is a subunit of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. Alternative sp...

Pfam Domains

NADH_dh_m_C1aa 28–76UCSCNADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial

Gene Aliases

HGNC Name

NADH:ubiquinone oxidoreductase subunit C1

HGNC Alias Symbol

KFYI

Papers
RefSeq ID
Protein change
DNA change
1 paper
NM_001184989.2
p.M1I
c.3G>A
1 paper
NM_001184989.2
p.L7R
c.20T>G
1 paper
NM_001184989.2
p.L7L
c.21G>T
1 paper
NM_001184989.2
p.P16L
c.47C>T
1 paper
NM_001184989.2
p.P23Splc
c.68-1G>C
1 paper
NM_001184989.2
p.P35delFs
c.104delG
1 paper
NM_001184989.2
p.L75delFs
c.225delC
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