Varaico: Literature-Extracted Genetic Variants

Gene:NMNAT1
Variant:p.F28delFs

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.F28delFs
c.83delT
Surrounding Variants
1 paper
NM_022787.4
p.A31insFs
c.91dupG
1 paper
NM_022787.4
p.A31insFs
c.91_92insC
1 paper
NM_022787.4
p.H24Y
c.70C>T
1 paper
NM_022787.4
p.A31V
c.92C>T
1 paper
NM_022787.4
p.M23I
c.69G>A
1 paper
NM_022787.4
p.M23I
c.69G>T
2 papers
NM_022787.4
p.N22S
c.65A>G
3 papers
NM_022787.4
p.D33G
c.98A>G
4 papers
NM_022787.4
p.I20N
c.59T>A
1 paper
NM_022787.4
p.M35T
c.104T>C
1 paper
NM_022787.4
p.P19L
c.56C>T
2 papers
NM_022787.4
p.N18K
c.54T>A
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."