Varaico: Literature-Extracted Genetic Variants

Gene:NADK2
Variant:p.Q85E

NADK2

45 papers

RefSeq Summary

This gene encodes a mitochondrial kinase that catalyzes the phosphorylation of NAD to yield NADP. Mutations in this gene result in 2,4-dienoyl-CoA reductase deficiency. Alternative splicing results in...

Pfam Domains

NAD_kinaseaa 71–214UCSCATP-NAD kinase N-terminal domain

Gene Aliases

HGNC Name

NAD kinase 2, mitochondrial

HGNC Previous Symbols

C5orf33; NADKD1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001085411.3
p.Q85E
c.253C>G
Surrounding Variants
1 paper
NM_001085411.3
p.R88H
c.263G>A
2 papers
NM_001085411.3
p.K76Q
c.226A>C
1 paper
NM_001085411.3
p.A75T
c.223G>A
1 paper
NM_001085411.3
p.K98Q
c.292A>C
1 paper
NM_001085411.3
p.D63G
c.188A>G
1 paper
NM_001085411.3
p.A56T
c.166G>A
1 paper
NM_001085411.3
p.G43V
c.128G>T
1 paper
NM_001085411.3
p.R36W
c.106C>T
1 paper
NM_001085411.3
p.G25G
c.75A>T
5 papers
NM_001085411.3
p.M1V
c.1A>G
1 paper
NM_001085411.3
p.L100_L101Splc
c.300+371C>G
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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."