Varaico: Literature-Extracted Genetic Variants

Gene:DDC
Variant:p.G96R

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
17 papers
NM_001082971.2
p.G96R
c.286G>C
Surrounding Variants
19 papers
NM_001082971.2
p.G96R
c.286G>A
2 papers
NM_001082971.2
p.C95*
c.285C>A
5 papers
NM_001082971.2
p.G96G
c.288G>A
1 paper
NM_001082971.2
p.C95G
c.283T>G
1 paper
NM_001082971.2
p.A97fs
c.289_290fs
3 papers
NM_001082971.2
p.A97delFs
c.289delC
1 paper
NM_001082971.2
p.L94M
c.280C>A
4 papers
NM_001082971.2
p.A97delFs
c.291delG
2 papers
NM_001082971.2
p.I98T
c.293T>C
4 papers
NM_001082971.2
p.M93V
c.277A>G
1 paper
NM_001082971.2
p.M93_L94insT
c.277_281ins3
4 papers
NM_001082971.2
p.G99D
c.296G>A
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