Varaico: Literature-Extracted Genetic Variants

Gene:DDC
Variant:p.F77L

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.F77L
c.231C>G
Surrounding Variants
9 papers
NM_001082971.2
p.F77L
c.231C>A
2 papers
NM_001082971.2
p.F77S
c.230T>C
1 paper
NM_001082971.2
p.A78S
c.232G>T
9 papers
NM_001082971.2
p.F77L
c.229T>C
1 paper
NM_001082971.2
p.A78A
c.234C>T
11 papers
NM_001082971.2
p.Y79C
c.236A>G
1 paper
NM_001082971.2
p.Y75F
c.224A>T
2 papers
NM_001082971.2
p.Y75D
c.223T>G
1 paper
NM_001082971.2
p.F80C
c.239T>G
1 paper
NM_001082971.2
p.P74L
c.221C>T
1 paper
NM_001082971.2
p.P74R
c.221C>G
9 papers
NM_001082971.2
p.P81L
c.242C>T
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