Varaico: Literature-Extracted Genetic Variants

Gene:NMNAT1
Variant:p.Y254H

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
1 paper
NM_022787.4
p.Y254H
c.760T>C
Surrounding Variants
1 paper
NM_022787.4
p.Y254C
c.761A>G
1 paper
NM_022787.4
p.L253Fs
c.759delinsTAFs
5 papers
NM_022787.4
p.S255N
c.764G>A
3 papers
NM_022787.4
p.H251P
c.752A>C
74 papers
NM_022787.4
p.E257K
c.769G>A
1 paper
NM_022787.4
p.E257Q
c.769G>C
1 paper
NM_022787.4
p.E257D
c.771G>C
1 paper
NM_022787.4
p.E257D
c.771G>T
1 paper
NM_022787.4
p.E249G
c.746A>G
1 paper
NM_022787.4
p.E249Q
c.745G>C
1 paper
NM_022787.4
p.I248T
c.743T>C
2 papers
NM_022787.4
p.E246V
c.737A>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."