Varaico: Literature-Extracted Genetic Variants

Gene:DDC
Variant:p.R7*

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
9 papers
NM_001082971.2
p.R7*
c.19C>T
Surrounding Variants
2 papers
NM_001082971.2
p.R8K
c.23G>A
1 paper
NM_001082971.2
p.E5K
c.13G>A
1 paper
NM_001082971.2
p.S4R
c.12T>A
1 paper
NM_001082971.2
p.S4N
c.11G>A
1 paper
NM_001082971.2
p.S4G
c.10A>G
1 paper
NM_001082971.2
p.G10V
c.29G>T
1 paper
NM_001082971.2
p.A3insFs
c.7dupG
1 paper
NM_001082971.2
p.K11*
c.31A>T
3 papers
NM_001082971.2
p.N2Y
c.4A>T
2 papers
NM_001082971.2
p.M1_N2insFs
c.3_4insT
1 paper
NM_001082971.2
p.M1I
c.3G>A
1 paper
NM_001082971.2
p.M1insFs
c.2_3insA
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