Varaico: Literature-Extracted Genetic Variants

Gene:DDC
Variant:p.T246A

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
3 papers
NM_001082971.2
p.T246A
c.736A>G
Surrounding Variants
6 papers
NM_001082971.2
p.T245I
c.734C>T
2 papers
NM_001082971.2
p.T245A
c.733A>G
1 paper
NM_001082971.2
p.T247A
c.739A>G
2 papers
NM_001082971.2
p.T245P
c.733A>C
1 paper
NM_001082971.2
p.C248R
c.742T>C
1 paper
NM_001082971.2
p.G244R
c.730G>C
1 paper
NM_001082971.2
p.G244R
c.730G>A
1 paper
NM_001082971.2
p.C249S
c.745T>A
1 paper
NM_001082971.2
p.C249S
c.746G>C
26 papers
NM_001082971.2
p.S250F
c.749C>T
9 papers
NM_001082971.2
p.F251S
c.752T>C
2 papers
NM_001082971.2
p.D252Y
c.754G>T
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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."