Varaico: Literature-Extracted Genetic Variants

Gene:NMNAT1
Variant:p.L160F

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.L160F
c.480G>C
Surrounding Variants
1 paper
NM_022787.4
p.L160F
c.480G>T
1 paper
NM_022787.4
p.L160delFs
c.478_479delTT
4 papers
NM_022787.4
p.D158H
c.472G>C
1 paper
NM_022787.4
p.V165I
c.493G>A
1 paper
NM_022787.4
p.G156_A157delFs
c.468_471del4
1 paper
NM_022787.4
p.G156R
c.466G>A
1 paper
NM_022787.4
p.G156R
c.466G>C
2 papers
NM_022787.4
p.P166_W169del0
c.498_506del9
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.L153P
c.458T>C
5 papers
NM_022787.4
p.L153V
c.457C>G
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