Varaico: Literature-Extracted Genetic Variants

Gene:NDUFAF1
Variant:p.K253R

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
11 papers
NM_016013.4
p.K253R
c.758A>G
Surrounding Variants
1 paper
NM_016013.4
p.G246E
c.737G>A
7 papers
NM_016013.4
p.G245R
c.733G>C
9 papers
NM_016013.4
p.G245R
c.733G>A
3 papers
NM_016013.4
p.M236I
c.708G>T
3 papers
NM_016013.4
p.M236I
c.708G>C
3 papers
NM_016013.4
p.M236I
c.708G>A
1 paper
NM_016013.4
p.Q235*
c.703C>T
1 paper
NM_016013.4
p.K224_E225del1
c.671_673delCCT
1 paper
NM_016013.4
p.R213H
c.638G>A
11 papers
NM_016013.4
p.R211C
c.631C>T
1 paper
NM_016013.4
p.L210L
c.630C>G
12 papers
NM_016013.4
p.T207P
c.619A>C
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