Varaico: Literature-Extracted Genetic Variants

Gene:NMNAT1
Variant:p.K56N

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.K56N
c.168G>T
Surrounding Variants
1 paper
NM_022787.4
p.K57insFs
c.169dupA
1 paper
NM_022787.4
p.K58_G59delFs
c.174_175delAG
1 paper
NM_022787.4
p.A54V
c.161C>T
1 paper
NM_022787.4
p.G59fs
c.175_176fs
1 paper
NM_022787.4
p.L60insFs
c.179_180insA
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.P50L
c.149C>T
1 paper
NM_022787.4
p.S49F
c.146C>T
3 papers
NM_022787.4
p.H65Y
c.193C>T
1 paper
NM_022787.4
p.I48insFs
c.142_143ins44
26 papers
NM_022787.4
p.R66W
c.196C>T
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