Varaico: Literature-Extracted Genetic Variants

Gene:DDC
Variant:p.Q223L

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.Q223L
c.668A>T
Surrounding Variants
13 papers
NM_001082971.2
p.L222P
c.665T>C
1 paper
NM_001082971.2
p.A225V
c.674C>T
1 paper
NM_001082971.2
p.L226P
c.677T>C
4 papers
NM_001082971.2
p.E227Q
c.679G>C
1 paper
NM_001082971.2
p.A219fs
c.655_656fs
2 papers
NM_001082971.2
p.A216_R218insFs
c.647_653dup7
1 paper
NM_001082971.2
p.D229H
c.685G>C
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.M217V
c.649A>G
1 paper
NM_001082971.2
p.A216S
c.646G>T
1 paper
NM_001082971.2
p.F215C
c.644T>G
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