Varaico: Literature-Extracted Genetic Variants

Gene:NMNAT1
Variant:p.D173G

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
5 papers
NM_022787.4
p.D173G
c.518A>G
Surrounding Variants
1 paper
NM_022787.4
p.I174F
c.520A>T
1 paper
NM_022787.4
p.T175insFs
c.524dupC
1 paper
NM_022787.4
p.T175I
c.524C>T
20 papers
NM_022787.4
p.W169*
c.507G>A
19 papers
NM_022787.4
p.W169*
c.506G>A
3 papers
NM_022787.4
p.V178M
c.532G>A
1 paper
NM_022787.4
p.A179_N180insA
c.535_539ins3
1 paper
NM_022787.4
p.N167ins2
c.500_501ins6
7 papers
NM_022787.4
p.N167S
c.500A>G
2 papers
NM_022787.4
p.P166_W169del0
c.498_506del9
5 papers
NM_022787.4
p.Y181C
c.542A>G
1 paper
NM_022787.4
p.V165I
c.493G>A
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