Varaico: Literature-Extracted Genetic Variants

Gene:NMNAT1
Variant:p.T224I

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.T224I
c.671C>T
Surrounding Variants
1 paper
NM_022787.4
p.T224K
c.671C>A
1 paper
NM_022787.4
p.I226delFs
c.676delA
2 papers
NM_022787.4
p.S223F
c.668C>T
1 paper
NM_022787.4
p.I226fs
c.676_677fs
1 paper
NM_022787.4
p.R227Q
c.680G>A
4 papers
NM_022787.4
p.I217N
c.650T>A
1 paper
NM_022787.4
p.G233delFs
c.698delG
2 papers
NM_022787.4
p.W216*
c.648G>A
5 papers
NM_022787.4
p.R232K
c.695G>A
2 papers
NM_022787.4
p.W216*
c.647G>A
2 papers
NM_022787.4
p.W216delFs
c.648delG
1 paper
NM_022787.4
p.G233R
c.697G>C
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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."