Varaico: Literature-Extracted Genetic Variants

Gene:DDC
Variant:p.Q28L

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.Q28L
c.83A>T
Surrounding Variants
2 papers
NM_001082971.2
p.Q28H
c.84G>T
2 papers
NM_001082971.2
p.Q28H
c.84G>C
1 paper
NM_001082971.2
p.Q28*
c.82C>T
1 paper
NM_001082971.2
p.Q28insFs
c.84dupG
1 paper
NM_001082971.2
p.R27L
c.80G>T
1 paper
NM_001082971.2
p.R27H
c.80G>A
2 papers
NM_001082971.2
p.R27C
c.79C>T
1 paper
NM_001082971.2
p.G26V
c.77G>T
8 papers
NM_001082971.2
p.E25K
c.73G>A
1 paper
NM_001082971.2
p.D32insFs
c.94_95insT
1 paper
NM_001082971.2
p.I24T
c.71T>C
1 paper
NM_001082971.2
p.D32E
c.96C>G
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