Varaico: Literature-Extracted Genetic Variants

Gene:NMNAT1
Variant:p.R237L

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.R237L
c.710G>T
Surrounding Variants
5 papers
NM_022787.4
p.R237H
c.710G>A
28 papers
NM_022787.4
p.R237C
c.709C>T
4 papers
NM_022787.4
p.Y238C
c.713A>G
1 paper
NM_022787.4
p.I236V
c.706A>G
5 papers
NM_022787.4
p.L239S
c.716T>C
1 paper
NM_022787.4
p.Q234R
c.701A>G
4 papers
NM_022787.4
p.P241S
c.721C>T
2 papers
NM_022787.4
p.P241delFs
c.723delA
1 paper
NM_022787.4
p.D242delFs
c.724_725delGA
1 paper
NM_022787.4
p.G233D
c.698G>A
1 paper
NM_022787.4
p.G233R
c.697G>C
1 paper
NM_022787.4
p.G233fs
c.697_698fs
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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."