Varaico: Literature-Extracted Genetic Variants

Gene:NMNAT1
Variant:p.E91K

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
2 papers
NM_022787.4
p.E91K
c.271G>A
Surrounding Variants
1 paper
NM_022787.4
p.E91_W92insC
c.271_275ins3
2 papers
NM_022787.4
p.E91G
c.272A>G
3 papers
NM_022787.4
p.W92*
c.275G>A
3 papers
NM_022787.4
p.W92*
c.276G>A
1 paper
NM_022787.4
p.E86K
c.256G>A
1 paper
NM_022787.4
p.W85*
c.255G>A
1 paper
NM_022787.4
p.W85*
c.254G>A
2 papers
NM_022787.4
p.W85R
c.253T>A
3 papers
NM_022787.4
p.W85R
c.253T>C
1 paper
NM_022787.4
p.T84S
c.250A>T
2 papers
NM_022787.4
p.V98M
c.292G>A
1 paper
NM_022787.4
p.V98L
c.292G>C
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