Varaico: Literature-Extracted Genetic Variants

Gene:DDC
Variant:p.A91V

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
11 papers
NM_001082971.2
p.A91V
c.272C>T
Surrounding Variants
1 paper
NM_001082971.2
p.A91E
c.272C>A
1 paper
NM_001082971.2
p.A91T
c.271G>A
7 papers
NM_001082971.2
p.D92V
c.275A>T
1 paper
NM_001082971.2
p.L90V
c.268C>G
4 papers
NM_001082971.2
p.M93V
c.277A>G
1 paper
NM_001082971.2
p.M93_L94insT
c.277_281ins3
1 paper
NM_001082971.2
p.M89T
c.266T>C
1 paper
NM_001082971.2
p.L94M
c.280C>A
1 paper
NM_001082971.2
p.C95G
c.283T>G
15 papers
NM_001082971.2
p.P87L
c.260C>T
2 papers
NM_001082971.2
p.C95*
c.285C>A
17 papers
NM_001082971.2
p.G96R
c.286G>C
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