Varaico: Literature-Extracted Genetic Variants

Gene:NMNAT1
Variant:p.V67F

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
3 papers
NM_022787.4
p.V67F
c.199G>T
Surrounding Variants
3 papers
NM_022787.4
p.R66Q
c.197G>A
26 papers
NM_022787.4
p.R66W
c.196C>T
10 papers
NM_022787.4
p.M69V
c.205A>G
3 papers
NM_022787.4
p.H65Y
c.193C>T
1 paper
NM_022787.4
p.E71A
c.212A>C
1 paper
NM_022787.4
p.L72delFs
c.216delT
2 papers
NM_022787.4
p.L72H
c.215T>A
1 paper
NM_022787.4
p.L60insFs
c.179_180insA
1 paper
NM_022787.4
p.G59fs
c.175_176fs
1 paper
NM_022787.4
p.K58_G59delFs
c.174_175delAG
1 paper
NM_022787.4
p.K75N
c.225G>C
1 paper
NM_022787.4
p.K75N
c.225G>T
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