Varaico: Literature-Extracted Genetic Variants

Gene:DDC
Variant:p.V257I

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.V257I
c.769G>A
Surrounding Variants
1 paper
NM_001082971.2
p.G258S
c.772G>A
1 paper
NM_001082971.2
p.L255_G258del0
c.765_773del9
1 paper
NM_001082971.2
p.P259S
c.775C>T
1 paper
NM_001082971.2
p.P259L
c.776C>T
1 paper
NM_001082971.2
p.P259P
c.777T>A
1 paper
NM_001082971.2
p.N253K
c.759T>G
1 paper
NM_001082971.2
p.N253K
c.759T>A
1 paper
NM_001082971.2
p.N253S
c.758A>G
1 paper
NM_001082971.2
p.D252E
c.756C>G
1 paper
NM_001082971.2
p.D252E
c.756C>A
3 papers
NM_001082971.2
p.D252G
c.755A>G
1 paper
NM_001082971.2
p.D252A
c.755A>C
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