Varaico: Literature-Extracted Genetic Variants

Gene:ACMSD
Variant:p.L90*

ACMSD

54 papers

RefSeq Summary

The neuronal excitotoxin quinolinate is an intermediate in the de novo synthesis pathway of NAD from tryptophan, and has been implicated in the pathogenesis of several neurodegenerative disorders. Qui...

Pfam Domains

Amidohydro_2aa 3–330UCSCAmidohydrolase

Gene Aliases

HGNC Name

aminocarboxymuconate semialdehyde decarboxylase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138326.3
p.L90*
c.269T>A
Surrounding Variants
1 paper
NM_138326.3
p.L90*
c.269T>G
1 paper
NM_138326.3
p.L100R
c.299T>G
1 paper
NM_138326.3
p.L100L
c.300T>A
1 paper
NM_138326.3
p.G113V
c.338G>T
1 paper
NM_138326.3
p.G115R
c.343G>A
1 paper
NM_138326.3
p.G115R
c.343G>C
1 paper
NM_138326.3
p.T116M
c.347C>T
1 paper
NM_138326.3
p.K134E
c.400A>G
1 paper
NM_138326.3
p.E149K
c.445G>A
1 paper
NM_138326.3
p.L152V
c.454C>G
1 paper
NM_138326.3
p.G67R
c.199G>A
1 paper
NM_138326.3
p.G67R
c.199G>C
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."