Varaico: Literature-Extracted Genetic Variants

Gene:DDC
Variant:p.F237S

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.F237S
c.710T>C
Surrounding Variants
1 paper
NM_001082971.2
p.F238_M239Splc
c.714+1G>T
1 paper
NM_001082971.2
p.F238_M239Splc
c.714+3A>G
62 papers
NM_001082971.2
p.F238_M239Splc
c.714+4A>T
4 papers
NM_001082971.2
p.G233D
c.698G>A
1 paper
NM_001082971.2
p.A232S
c.694G>T
1 paper
NM_001082971.2
p.D229E
c.687C>G
1 paper
NM_001082971.2
p.D229E
c.687C>A
1 paper
NM_001082971.2
p.D229H
c.685G>C
4 papers
NM_001082971.2
p.E227Q
c.679G>C
1 paper
NM_001082971.2
p.L226P
c.677T>C
1 paper
NM_001082971.2
p.A225V
c.674C>T
1 paper
NM_001082971.2
p.Q223L
c.668A>T
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