Varaico: Literature-Extracted Genetic Variants

Gene:DDC
Variant:p.V60A

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
18 papers
NM_001082971.2
p.V60A
c.179T>C
Surrounding Variants
1 paper
NM_001082971.2
p.V60D
c.179T>A
1 paper
NM_001082971.2
p.V60I
c.178G>A
3 papers
NM_001082971.2
p.E61K
c.181G>A
2 papers
NM_001082971.2
p.N58_V60del3
c.172_179del9
1 paper
NM_001082971.2
p.E61A
c.182A>C
12 papers
NM_001082971.2
p.D59N
c.175G>A
1 paper
NM_001082971.2
p.E61delFs
c.182delT
1 paper
NM_001082971.2
p.I57del1
c.169_171delGAT
1 paper
NM_001082971.2
p.K62N
c.186G>T
1 paper
NM_001082971.2
p.I56_K62ins2
c.168_185dup18
1 paper
NM_001082971.2
p.K62N
c.186G>C
1 paper
NM_001082971.2
p.I63L
c.187A>T
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