Varaico: Literature-Extracted Genetic Variants

Gene:NADK2
Variant:p.G315delFs

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.G315delFs
c.944delC
Surrounding Variants
1 paper
NM_001085411.3
p.K317Q
c.949A>C
3 papers
NM_001085411.3
p.W319fs
c.955_956fs
2 papers
NM_001085411.3
p.W319Splc
c.956+6T>C
1 paper
NM_001085411.3
p.S305T
c.914G>C
2 papers
NM_001085411.3
p.K304Q
c.910A>C
1 paper
NM_001085411.3
p.Y291*
c.873T>G
1 paper
NM_001085411.3
p.Y291*
c.873T>A
2 papers
NM_001085411.3
p.S289A
c.865T>G
1 paper
NM_001085411.3
p.L284_S285delFs
c.852_855del4
1 paper
NM_001085411.3
p.S283N
c.848G>A
1 paper
NM_001085411.3
p.W319*
c.956G>A
1 paper
NM_001085411.3
p.W319*
c.957G>A
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