Varaico: Literature-Extracted Genetic Variants

Gene:NADSYN1
Variant:p.L215P

NADSYN1

104 papers

RefSeq Summary

Nicotinamide adenine dinucleotide (NAD) is a coenzyme in metabolic redox reactions, a precursor for several cell signaling molecules, and a substrate for protein posttranslational modifications. NAD s...

Pfam Domains

CN_hydrolaseaa 6–283UCSCCarbon-nitrogen hydrolase
NAD_synthaseaa 337–651UCSCNAD synthase

Gene Aliases

HGNC Name

NAD synthetase 1

HGNC Alias Symbol

FLJ10631

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_018161.5
p.L215P
c.644T>C
Surrounding Variants
4 papers
NM_018161.5
p.Q204H
c.612A>C
3 papers
NM_018161.5
p.Q204H
c.612A>T
1 paper
NM_018161.5
p.A199T
c.595G>A
1 paper
NM_018161.5
p.I196V
c.586A>G
1 paper
NM_018161.5
p.I195L
c.583A>C
1 paper
NM_018161.5
p.I195F
c.583A>T
1 paper
NM_018161.5
p.C175Y
c.524G>A
1 paper
NM_018161.5
p.C175S
c.524G>C
1 paper
NM_018161.5
p.C175S
c.523T>A
1 paper
NM_018161.5
p.E173K
c.517G>A
1 paper
NM_018161.5
p.N223N
c.669C>T
1 paper
NM_018161.5
p.G237R
c.709G>A
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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."