Varaico: Literature-Extracted Genetic Variants

Gene:NMNAT1
Variant:p.A189delFs

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
3 papers
NM_022787.4
p.A189delFs
c.565delG
Surrounding Variants
3 papers
NM_022787.4
p.R188W
c.562C>T
1 paper
NM_022787.4
p.R188Q
c.563G>A
2 papers
NM_022787.4
p.A189fs
c.565_566fs
1 paper
NM_022787.4
p.G190R
c.568G>A
3 papers
NM_022787.4
p.I184M
c.552A>G
1 paper
NM_022787.4
p.I184T
c.551T>C
1 paper
NM_022787.4
p.D192G
c.575A>G
2 papers
NM_022787.4
p.L183F
c.547C>T
5 papers
NM_022787.4
p.Y181C
c.542A>G
1 paper
NM_022787.4
p.I197V
c.589A>G
1 paper
NM_022787.4
p.A179_N180insA
c.535_539ins3
3 papers
NM_022787.4
p.V178M
c.532G>A
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