Varaico: Literature-Extracted Genetic Variants

Gene:NMNAT1
Variant:p.Y41S

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.Y41S
c.122A>C
Surrounding Variants
1 paper
NM_022787.4
p.Y41H
c.121T>C
6 papers
NM_022787.4
p.G39Splc
c.116-2A>G
1 paper
NM_022787.4
p.G46C
c.136G>T
1 paper
NM_022787.4
p.G46V
c.137G>T
1 paper
NM_022787.4
p.I48insFs
c.142_143ins44
1 paper
NM_022787.4
p.S49F
c.146C>T
1 paper
NM_022787.4
p.P50L
c.149C>T
1 paper
NM_022787.4
p.G52D
c.155G>A
1 paper
NM_022787.4
p.G52V
c.155G>T
1 paper
NM_022787.4
p.A54V
c.161C>T
1 paper
NM_022787.4
p.K57insFs
c.169dupA
1 paper
NM_022787.4
p.K56N
c.168G>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."