Varaico: Literature-Extracted Genetic Variants

Gene:DDC
Variant:p.V33L

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
5 papers
NM_001082971.2
p.V33L
c.97G>T
Surrounding Variants
6 papers
NM_001082971.2
p.V33L
c.97G>C
1 paper
NM_001082971.2
p.D32E
c.96C>G
1 paper
NM_001082971.2
p.D32E
c.96C>A
1 paper
NM_001082971.2
p.D32insFs
c.94_95insT
7 papers
NM_001082971.2
p.G36R
c.106G>C
8 papers
NM_001082971.2
p.G36R
c.106G>A
9 papers
NM_001082971.2
p.P35delFs
c.105delG
1 paper
NM_001082971.2
p.G36E
c.107G>A
1 paper
NM_001082971.2
p.Q28insFs
c.84dupG
4 papers
NM_001082971.2
p.Y37fs
c.109_110fs
2 papers
NM_001082971.2
p.Q28H
c.84G>T
2 papers
NM_001082971.2
p.Q28H
c.84G>C
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