Varaico: Literature-Extracted Genetic Variants

Gene:DDC
Variant:p.N253K

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
1 paper
NM_001082971.2
p.N253K
c.759T>A
Surrounding Variants
1 paper
NM_001082971.2
p.N253K
c.759T>G
1 paper
NM_001082971.2
p.N253S
c.758A>G
1 paper
NM_001082971.2
p.D252E
c.756C>G
1 paper
NM_001082971.2
p.D252E
c.756C>A
3 papers
NM_001082971.2
p.D252G
c.755A>G
1 paper
NM_001082971.2
p.D252A
c.755A>C
1 paper
NM_001082971.2
p.G244_F251del0
c.730_753del24
2 papers
NM_001082971.2
p.D252Y
c.754G>T
9 papers
NM_001082971.2
p.F251S
c.752T>C
1 paper
NM_001082971.2
p.V257I
c.769G>A
26 papers
NM_001082971.2
p.S250F
c.749C>T
1 paper
NM_001082971.2
p.C249S
c.746G>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."