Varaico: Literature-Extracted Genetic Variants

Gene:NADK2
Variant:p.R325insFs

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.R325insFs
c.974dupG
Surrounding Variants
1 paper
NM_001085411.3
p.A330S
c.988G>T
1 paper
NM_001085411.3
p.V331A
c.992T>C
1 paper
NM_001085411.3
p.W319*
c.957G>A
1 paper
NM_001085411.3
p.W319*
c.956G>A
1 paper
NM_001085411.3
p.V334A
c.1001T>C
1 paper
NM_001085411.3
p.K339Q
c.1015A>C
1 paper
NM_001085411.3
p.K339N
c.1017A>T
1 paper
NM_001085411.3
p.K339N
c.1017A>C
6 papers
NM_001085411.3
p.R340*
c.1018C>T
1 paper
NM_001085411.3
p.K355Q
c.1063A>C
1 paper
NM_001085411.3
p.N358S
c.1073A>G
1 paper
NM_001085411.3
p.R378Q
c.1133G>A
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."