Varaico: Literature-Extracted Genetic Variants

Gene:NDUFAF1
Variant:p.F82L

NDUFAF1

85 papers

RefSeq Summary

This gene encodes a complex I assembly factor protein. Complex I (NADH-ubiquinone oxidoreductase) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mito...

Pfam Domains

CIA30aa 125–298UCSCComplex I intermediate-associated protein 30 (CIA30)

Gene Aliases

HGNC Name

NADH:ubiquinone oxidoreductase complex assembly factor 1

HGNC Alias Symbols

CIA30; CGI-65

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016013.4
p.F82L
c.246C>G
Surrounding Variants
1 paper
NM_016013.4
p.F82L
c.246C>A
5 papers
NM_016013.4
p.D83N
c.247G>A
1 paper
NM_016013.4
p.F82L
c.244T>C
1 paper
NM_016013.4
p.D88fs
c.262_263fs
1 paper
NM_016013.4
p.E89Q
c.265G>C
1 paper
NM_016013.4
p.D88_E89delFs
c.264_267del4
5 papers
NM_016013.4
p.H93R
c.278A>G
1 paper
NM_016013.4
p.G107A
c.320G>C
1 paper
NM_016013.4
p.T55I
c.164C>T
1 paper
NM_016013.4
p.S45_P46Fs
c.134_136delinsCCFs
1 paper
NM_016013.4
p.V123A
c.368T>C
1 paper
NM_016013.4
p.G129R
c.385G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."