Varaico: Literature-Extracted Genetic Variants

Gene:DDC
Variant:p.S104C

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.S104C
c.311C>G
Surrounding Variants
4 papers
NM_001082971.2
p.S104F
c.311C>T
1 paper
NM_001082971.2
p.S104Y
c.311C>A
2 papers
NM_001082971.2
p.S104P
c.310T>C
2 papers
NM_001082971.2
p.F103L
c.309C>G
2 papers
NM_001082971.2
p.F103L
c.309C>A
2 papers
NM_001082971.2
p.F103L
c.307T>C
6 papers
NM_001082971.2
p.W105C
c.315G>T
6 papers
NM_001082971.2
p.W105C
c.315G>C
1 paper
NM_001082971.2
p.G102G
c.306C>G
1 paper
NM_001082971.2
p.G102A
c.305G>C
25 papers
NM_001082971.2
p.G102S
c.304G>A
1 paper
NM_001082971.2
p.I101fs
c.301_302fs
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