Varaico: Literature-Extracted Genetic Variants

Gene:DDC
Variant:p.Y20H

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.Y20H
c.58T>C
Surrounding Variants
1 paper
NM_001082971.2
p.M21V
c.61A>G
4 papers
NM_001082971.2
p.Y20del1
c.58_59delGTA
1 paper
NM_001082971.2
p.A18V
c.53C>T
1 paper
NM_001082971.2
p.A18T
c.52G>A
1 paper
NM_001082971.2
p.M17V
c.49A>G
1 paper
NM_001082971.2
p.Y16_M17delins
c.48_49delinsAG
1 paper
NM_001082971.2
p.G23D
c.68G>A
4 papers
NM_001082971.2
p.Y16*
c.48C>G
4 papers
NM_001082971.2
p.Y16*
c.48C>A
1 paper
NM_001082971.2
p.I24T
c.71T>C
4 papers
NM_001082971.2
p.D15G
c.44A>G
8 papers
NM_001082971.2
p.E25K
c.73G>A
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