Varaico: Literature-Extracted Genetic Variants

Gene:DDC
Variant:p.H70Q

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.H70Q
c.210C>G
Surrounding Variants
2 papers
NM_001082971.2
p.H70Q
c.210C>A
7 papers
NM_001082971.2
p.H70Y
c.208C>T
1 paper
NM_001082971.2
p.T69T
c.207G>A
21 papers
NM_001082971.2
p.T69M
c.206C>T
8 papers
NM_001082971.2
p.H72Y
c.214C>T
2 papers
NM_001082971.2
p.H72P
c.215A>C
6 papers
NM_001082971.2
p.V68M
c.202G>A
1 paper
NM_001082971.2
p.P74T
c.220C>A
1 paper
NM_001082971.2
p.P74L
c.221C>T
1 paper
NM_001082971.2
p.G67_V68Splc
c.202-3C>T
1 paper
NM_001082971.2
p.P74R
c.221C>G
2 papers
NM_001082971.2
p.Y75D
c.223T>G
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