Varaico: Literature-Extracted Genetic Variants

Gene:NADK2
Variant:p.K176N

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.K176N
c.528A>T
Surrounding Variants
1 paper
NM_001085411.3
p.K176N
c.528A>C
1 paper
NM_001085411.3
p.K176Q
c.526A>C
1 paper
NM_001085411.3
p.N182N
c.546C>T
1 paper
NM_001085411.3
p.K170Q
c.508A>C
2 papers
NM_001085411.3
p.D161A
c.482A>C
1 paper
NM_001085411.3
p.D161N
c.481G>A
1 paper
NM_001085411.3
p.E135*
c.403G>T
1 paper
NM_001085411.3
p.S128R
c.384T>G
1 paper
NM_001085411.3
p.D127G
c.380A>G
1 paper
NM_001085411.3
p.L112F
c.334C>T
1 paper
NM_001085411.3
p.K104Q
c.310A>C
3 papers
NM_001085411.3
p.S188A
c.562T>G
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