Varaico: Literature-Extracted Genetic Variants

Gene:DDC
Variant:p.G99D

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
4 papers
NM_001082971.2
p.G99D
c.296G>A
Surrounding Variants
8 papers
NM_001082971.2
p.C100S
c.298T>A
2 papers
NM_001082971.2
p.I98T
c.293T>C
8 papers
NM_001082971.2
p.C100S
c.299G>C
4 papers
NM_001082971.2
p.A97delFs
c.291delG
1 paper
NM_001082971.2
p.I101V
c.301A>G
3 papers
NM_001082971.2
p.A97delFs
c.289delC
1 paper
NM_001082971.2
p.I101fs
c.301_302fs
1 paper
NM_001082971.2
p.A97fs
c.289_290fs
25 papers
NM_001082971.2
p.G102S
c.304G>A
5 papers
NM_001082971.2
p.G96G
c.288G>A
1 paper
NM_001082971.2
p.G102A
c.305G>C
17 papers
NM_001082971.2
p.G96R
c.286G>C
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