Varaico: Literature-Extracted Genetic Variants

Gene:NMNAT1
Variant:p.I197V

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.I197V
c.589A>G
Surrounding Variants
2 papers
NM_022787.4
p.E199*
c.595G>T
1 paper
NM_022787.4
p.D192G
c.575A>G
1 paper
NM_022787.4
p.G190R
c.568G>A
2 papers
NM_022787.4
p.K205_R207delFs
c.613_619del7
2 papers
NM_022787.4
p.A189fs
c.565_566fs
1 paper
NM_022787.4
p.R188Q
c.563G>A
3 papers
NM_022787.4
p.R188W
c.562C>T
3 papers
NM_022787.4
p.A189delFs
c.565delG
4 papers
NM_022787.4
p.H206R
c.617A>G
19 papers
NM_022787.4
p.R207W
c.619C>T
3 papers
NM_022787.4
p.I184M
c.552A>G
1 paper
NM_022787.4
p.N209S
c.626A>G
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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."