Varaico: Literature-Extracted Genetic Variants

Gene:DDC
Variant:p.C401S

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
2 papers
NM_001082971.2
p.C401S
c.1201T>A
Surrounding Variants
2 papers
NM_001082971.2
p.C401S
c.1202G>C
1 paper
NM_001082971.2
p.E399A
c.1196A>C
1 paper
NM_001082971.2
p.E399Q
c.1195G>C
1 paper
NM_001082971.2
p.P396A
c.1186C>G
1 paper
NM_001082971.2
p.D395E
c.1185T>G
3 papers
NM_001082971.2
p.L406Q
c.1217T>A
1 paper
NM_001082971.2
p.D395E
c.1185T>A
1 paper
NM_001082971.2
p.Q394R
c.1181A>G
9 papers
NM_001082971.2
p.L408I
c.1222C>A
1 paper
NM_001082971.2
p.V409A
c.1226T>C
9 papers
NM_001082971.2
p.C410G
c.1228T>G
2 papers
NM_001082971.2
p.C410Y
c.1229G>A
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