Varaico: Literature-Extracted Genetic Variants

Gene:DDC
Variant:p.S84R

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
4 papers
NM_001082971.2
p.S84R
c.252C>A
Surrounding Variants
4 papers
NM_001082971.2
p.S84R
c.252C>G
7 papers
NM_001082971.2
p.S85L
c.254C>T
4 papers
NM_001082971.2
p.S84R
c.250A>C
2 papers
NM_001082971.2
p.Y86N
c.256T>A
3 papers
NM_001082971.2
p.T82T
c.246T>A
15 papers
NM_001082971.2
p.P87L
c.260C>T
1 paper
NM_001082971.2
p.T82P
c.244A>C
9 papers
NM_001082971.2
p.P81L
c.242C>T
1 paper
NM_001082971.2
p.F80C
c.239T>G
1 paper
NM_001082971.2
p.M89T
c.266T>C
1 paper
NM_001082971.2
p.L90V
c.268C>G
11 papers
NM_001082971.2
p.Y79C
c.236A>G
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