Varaico: Literature-Extracted Genetic Variants

Gene:NADSYN1
Variant:p.R672*

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
5 papers
NM_018161.5
p.R672*
c.2014C>T
Surrounding Variants
1 paper
NM_018161.5
p.R668W
c.2002A>T
1 paper
NM_018161.5
p.T654A
c.1960A>G
1 paper
NM_018161.5
p.Q690_V691Splc
c.2070+2T>C
1 paper
NM_018161.5
p.F639L
c.1917T>A
1 paper
NM_018161.5
p.F639L
c.1917T>G
1 paper
NM_018161.5
p.F639L
c.1915T>C
1 paper
NM_018161.5
p.G621S
c.1861G>A
2 papers
NM_018161.5
p.Y613*
c.1839C>A
3 papers
NM_018161.5
p.Y613*
c.1839C>G
1 paper
NM_018161.5
p.P612H
c.1835C>A
2 papers
NM_018161.5
p.G611delFs
c.1833delG
4 papers
NM_018161.5
p.V607fs
c.1819_1820fs
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