Varaico: Literature-Extracted Genetic Variants

Gene:DDC
Variant:p.P87L

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
15 papers
NM_001082971.2
p.P87L
c.260C>T
Surrounding Variants
2 papers
NM_001082971.2
p.Y86N
c.256T>A
1 paper
NM_001082971.2
p.M89T
c.266T>C
7 papers
NM_001082971.2
p.S85L
c.254C>T
4 papers
NM_001082971.2
p.S84R
c.252C>G
1 paper
NM_001082971.2
p.L90V
c.268C>G
4 papers
NM_001082971.2
p.S84R
c.252C>A
4 papers
NM_001082971.2
p.S84R
c.250A>C
1 paper
NM_001082971.2
p.A91T
c.271G>A
11 papers
NM_001082971.2
p.A91V
c.272C>T
1 paper
NM_001082971.2
p.A91E
c.272C>A
3 papers
NM_001082971.2
p.T82T
c.246T>A
7 papers
NM_001082971.2
p.D92V
c.275A>T
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