Varaico: Literature-Extracted Genetic Variants

Gene:DDC
Variant:p.K205T

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.K205T
c.614A>C
Surrounding Variants
2 papers
NM_001082971.2
p.V204V
c.612G>A
2 papers
NM_001082971.2
p.G203E
c.608G>A
1 paper
NM_001082971.2
p.A208V
c.623C>T
1 paper
NM_001082971.2
p.I209fs
c.625_626fs
2 papers
NM_001082971.2
p.A208delFs
c.624delG
3 papers
NM_001082971.2
p.I201N
c.602T>A
1 paper
NM_001082971.2
p.L200*
c.599T>G
1 paper
NM_001082971.2
p.L200*
c.599T>A
12 papers
NM_001082971.2
p.P210L
c.629C>T
1 paper
NM_001082971.2
p.P210R
c.629C>G
1 paper
NM_001082971.2
p.G199V
c.596G>T
1 paper
NM_001082971.2
p.D212E
c.636T>G
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