Varaico: Literature-Extracted Genetic Variants

Gene:NMNAT1
Variant:p.S4P

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.S4P
c.10T>C
Surrounding Variants
3 papers
NM_022787.4
p.S4insFs
c.12dupC
1 paper
NM_022787.4
p.N3Y
c.7A>T
1 paper
NM_022787.4
p.E5insFs
c.13_14insT
3 papers
NM_022787.4
p.E5fs
c.13_14fs
1 paper
NM_022787.4
p.K6E
c.16A>G
1 paper
NM_022787.4
p.M1_E2insFs
c.3_4insT
1 paper
NM_022787.4
p.M1K
c.2T>A
1 paper
NM_022787.4
p.M1T
c.2T>C
1 paper
NM_022787.4
p.M1insFs
c.3dupG
2 papers
NM_022787.4
p.M1V
c.1A>G
1 paper
NM_022787.4
p.M1delFs
c.1delA
2 papers
NM_022787.4
p.E8A
c.23A>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."