Varaico: Literature-Extracted Genetic Variants

Gene:DDC
Variant:p.D51V

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
1 paper
NM_001082971.2
p.D51V
c.152A>T
Surrounding Variants
12 papers
NM_001082971.2
p.P47H
c.140C>A
3 papers
NM_001082971.2
p.P47A
c.139C>G
1 paper
NM_001082971.2
p.I56V
c.166A>G
1 paper
NM_001082971.2
p.A46V
c.137C>T
1 paper
NM_001082971.2
p.I57S
c.170T>G
6 papers
NM_001082971.2
p.I57T
c.170T>C
1 paper
NM_001082971.2
p.A45V
c.134C>T
1 paper
NM_001082971.2
p.A45S
c.133G>T
1 paper
NM_001082971.2
p.A45T
c.133G>A
1 paper
NM_001082971.2
p.I57del1
c.169_171delGAT
4 papers
NM_001082971.2
p.P43delFs
c.127delG
2 papers
NM_001082971.2
p.P35_P43del0
c.104_127del24
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