Varaico: Literature-Extracted Genetic Variants

Gene:NMNAT1
Variant:p.K75N

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.K75N
c.225G>T
Surrounding Variants
1 paper
NM_022787.4
p.K75N
c.225G>C
2 papers
NM_022787.4
p.L72H
c.215T>A
1 paper
NM_022787.4
p.W79R
c.235T>A
1 paper
NM_022787.4
p.W79R
c.235T>C
1 paper
NM_022787.4
p.L72delFs
c.216delT
1 paper
NM_022787.4
p.E71A
c.212A>C
1 paper
NM_022787.4
p.V82F
c.244G>T
10 papers
NM_022787.4
p.M69V
c.205A>G
5 papers
NM_022787.4
p.V82A
c.245T>C
1 paper
NM_022787.4
p.T84S
c.250A>T
3 papers
NM_022787.4
p.V67F
c.199G>T
3 papers
NM_022787.4
p.R66Q
c.197G>A
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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."