Varaico: Literature-Extracted Genetic Variants

Gene:NADK2
Variant:p.E260G

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.E260G
c.779A>G
Surrounding Variants
1 paper
NM_001085411.3
p.L243_S244insFs
c.729_730insTT
1 paper
NM_001085411.3
p.T229A
c.685A>G
1 paper
NM_001085411.3
p.L224F
c.672A>T
1 paper
NM_001085411.3
p.L224F
c.672A>C
2 papers
NM_001085411.3
p.R211H
c.632G>A
3 papers
NM_001085411.3
p.S188A
c.562T>G
1 paper
NM_001085411.3
p.S283N
c.848G>A
1 paper
NM_001085411.3
p.L284_S285delFs
c.852_855del4
1 paper
NM_001085411.3
p.N182N
c.546C>T
1 paper
NM_001085411.3
p.K176N
c.528A>T
1 paper
NM_001085411.3
p.K176N
c.528A>C
1 paper
NM_001085411.3
p.K176Q
c.526A>C
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