Varaico: Literature-Extracted Genetic Variants

Gene:NMNAT1
Variant:p.N273D

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
9 papers
NM_022787.4
p.N273D
c.817A>G
Surrounding Variants
1 paper
NM_022787.4
p.A275V
c.824C>T
1 paper
NM_022787.4
p.E276A
c.827A>C
1 paper
NM_022787.4
p.K278K
c.834G>A
1 paper
NM_022787.4
p.L267V
c.799C>G
5 papers
NM_022787.4
p.*280Q
c.838T>C
1 paper
NM_022787.4
p.R261R
c.783G>A
1 paper
NM_022787.4
p.R261S
c.783G>C
1 paper
NM_022787.4
p.E257D
c.771G>C
1 paper
NM_022787.4
p.E257D
c.771G>T
74 papers
NM_022787.4
p.E257K
c.769G>A
1 paper
NM_022787.4
p.E257Q
c.769G>C
5 papers
NM_022787.4
p.S255N
c.764G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."