Varaico: Literature-Extracted Genetic Variants

Gene:NMNAT1
Variant:p.N18K

NMNAT1

190 papers

RefSeq Summary

This gene encodes an enzyme which catalyzes a key step in the biosynthesis of nicotinamide adenine dinucleotide (NAD). The encoded enzyme is one of several nicotinamide nucleotide adenylyltransferases...

Pfam Domains

CTP_transf_likeaa 12–229UCSCCytidylyltransferase-like

Gene Aliases

HGNC Name

nicotinamide nucleotide adenylyltransferase 1

HGNC Previous Symbol

LCA9

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_022787.4
p.N18K
c.54T>G
Surrounding Variants
2 papers
NM_022787.4
p.N18K
c.54T>A
16 papers
NM_022787.4
p.N18S
c.53A>G
1 paper
NM_022787.4
p.P19L
c.56C>T
1 paper
NM_022787.4
p.F17L
c.51C>A
1 paper
NM_022787.4
p.F17L
c.51C>G
4 papers
NM_022787.4
p.I20N
c.59T>A
1 paper
NM_022787.4
p.F17L
c.49T>C
2 papers
NM_022787.4
p.N22S
c.65A>G
2 papers
NM_022787.4
p.G15S
c.43G>A
1 paper
NM_022787.4
p.M23I
c.69G>A
1 paper
NM_022787.4
p.M23I
c.69G>T
1 paper
NM_022787.4
p.H24Y
c.70C>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."