Varaico: Literature-Extracted Genetic Variants

Gene:DDC
Variant:p.W267R

DDC

312 papers

RefSeq Summary

The encoded protein catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine. Defects in this gene are the ca...

Pfam Domains

Pyridoxal_deCaa 35–414UCSCPyridoxal-dependent decarboxylase conserved domain

Gene Aliases

HGNC Name

dopa decarboxylase

HGNC Alias Symbol

AADC

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
10 papers
NM_001082971.2
p.W267R
c.799T>C
Surrounding Variants
10 papers
NM_001082971.2
p.W267R
c.799T>A
4 papers
NM_001082971.2
p.W267*
c.800G>A
5 papers
NM_001082971.2
p.W267*
c.801G>A
1 paper
NM_001082971.2
p.D265N
c.793G>A
2 papers
NM_001082971.2
p.D271N
c.811G>A
3 papers
NM_001082971.2
p.D271V
c.812A>T
3 papers
NM_001082971.2
p.D271A
c.812A>C
3 papers
NM_001082971.2
p.D271delins
c.811_812delinsTG
4 papers
NM_001082971.2
p.D271E
c.813T>G
4 papers
NM_001082971.2
p.D271E
c.813T>A
3 papers
NM_001082971.2
p.C261F
c.782G>T
1 paper
NM_001082971.2
p.A273G
c.818C>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."