Varaico: Literature-Extracted Genetic Variants

Gene:DDC
Variant:p.H335Q

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
2 papers
NM_001082971.2
p.H335Q
c.1005C>A
Surrounding Variants
1 paper
NM_001082971.2
p.S336R
c.1006A>C
1 paper
NM_001082971.2
p.S336N
c.1007G>A
1 paper
NM_001082971.2
p.S336R
c.1008C>G
1 paper
NM_001082971.2
p.S336R
c.1008C>A
1 paper
NM_001082971.2
p.H337Y
c.1009C>T
1 paper
NM_001082971.2
p.H337R
c.1010A>G
1 paper
NM_001082971.2
p.K334Q
c.1000A>C
2 papers
NM_001082971.2
p.Y332F
c.995A>T
1 paper
NM_001082971.2
p.Y332C
c.995A>G
1 paper
NM_001082971.2
p.Y332H
c.994T>C
1 paper
NM_001082971.2
p.T331S
c.992C>G
1 paper
NM_001082971.2
p.T331S
c.991A>T
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