Varaico: Literature-Extracted Genetic Variants

Gene:NMNAT1
Variant:p.L153P

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
2 papers
NM_022787.4
p.L153P
c.458T>C
Surrounding Variants
5 papers
NM_022787.4
p.L153V
c.457C>G
1 paper
NM_022787.4
p.K152R
c.455A>G
1 paper
NM_022787.4
p.V151G
c.452T>G
2 papers
NM_022787.4
p.V151I
c.451G>A
5 papers
NM_022787.4
p.V151F
c.451G>T
1 paper
NM_022787.4
p.G156R
c.466G>A
1 paper
NM_022787.4
p.K150N
c.450G>C
1 paper
NM_022787.4
p.G156R
c.466G>C
1 paper
NM_022787.4
p.K150N
c.450G>T
1 paper
NM_022787.4
p.G156_A157delFs
c.468_471del4
4 papers
NM_022787.4
p.D158H
c.472G>C
1 paper
NM_022787.4
p.V148A
c.443T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."