Varaico: Literature-Extracted Genetic Variants

Gene:NADSYN1
Variant:p.E311K

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
1 paper
NM_018161.5
p.E311K
c.931G>A
Surrounding Variants
1 paper
NM_018161.5
p.S308S
c.924G>C
1 paper
NM_018161.5
p.A306T
c.916G>A
1 paper
NM_018161.5
p.V301A
c.902T>C
3 papers
NM_018161.5
p.P297L
c.890C>T
1 paper
NM_018161.5
p.E330K
c.988G>A
1 paper
NM_018161.5
p.E331K
c.991G>A
1 paper
NM_018161.5
p.G335*
c.1003G>T
1 paper
NM_018161.5
p.R346R
c.1036C>A
2 papers
NM_018161.5
p.R346*
c.1036C>T
2 papers
NM_018161.5
p.R346Q
c.1037G>A
1 paper
NM_018161.5
p.Q349insFs
c.1046_1047insG
1 paper
NM_018161.5
p.Q349_A350Splc
c.1048-1G>T
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