Varaico: Literature-Extracted Genetic Variants

Gene:NMNAT1
Variant:p.V212M

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
17 papers
NM_022787.4
p.V212M
c.634G>A
Surrounding Variants
1 paper
NM_022787.4
p.V212L
c.634G>T
1 paper
NM_022787.4
p.V212insFs
c.635_636insGC
1 paper
NM_022787.4
p.H211Y
c.631C>T
1 paper
NM_022787.4
p.N209S
c.626A>G
2 papers
NM_022787.4
p.E215*
c.643G>T
2 papers
NM_022787.4
p.W216delFs
c.648delG
2 papers
NM_022787.4
p.W216*
c.647G>A
2 papers
NM_022787.4
p.W216*
c.648G>A
19 papers
NM_022787.4
p.R207W
c.619C>T
4 papers
NM_022787.4
p.I217N
c.650T>A
4 papers
NM_022787.4
p.H206R
c.617A>G
2 papers
NM_022787.4
p.K205_R207delFs
c.613_619del7
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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."