Varaico: Literature-Extracted Genetic Variants

Gene:NADK
Variant:p.N339H

NADK

64 papers

RefSeq Summary

NADK catalyzes the transfer of a phosphate group from ATP to NAD to generate NADP, which in its reduced form acts as an electron donor for biosynthetic reactions (Lerner et al., 2001 [PubMed 11594753]...

Pfam Domains

NAD_kinaseaa 107–232UCSCATP-NAD kinase N-terminal domain
NAD_kinaseaa 107–232UCSCATP-NAD kinase N-terminal domain
NAD_kinase_Caa 283–410UCSCATP-NAD kinase C-terminal domain
NAD_kinase_Caa 283–410UCSCATP-NAD kinase C-terminal domain

Gene Aliases

HGNC Name

NAD kinase

HGNC Alias Symbols

FLJ13052; NADK1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_023018.5
p.N339H
c.1015A>C
Surrounding Variants
1 paper
NM_023018.5
p.T346T
c.1038G>T
1 paper
NM_023018.5
p.A330V
c.989C>T
1 paper
NM_023018.5
p.A330S
c.988G>T
1 paper
NM_023018.5
p.C349S
c.1045T>A
1 paper
NM_023018.5
p.C349S
c.1046G>C
1 paper
NM_023018.5
p.H351R
c.1052A>G
1 paper
NM_023018.5
p.S319Y
c.956C>A
1 paper
NM_023018.5
p.V318L
c.952G>T
1 paper
NM_023018.5
p.D314H
c.940G>C
1 paper
NM_023018.5
p.V311L
c.931G>T
1 paper
NM_023018.5
p.V311L
c.931G>C
1 paper
NM_023018.5
p.P292S
c.874C>T
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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."