Varaico: Literature-Extracted Genetic Variants

Gene:DDC
Variant:p.P352delFs

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.P352delFs
c.1055delG
Surrounding Variants
13 papers
NM_001082971.2
p.L353P
c.1058T>C
1 paper
NM_001082971.2
p.P352S
c.1054C>T
2 papers
NM_001082971.2
p.P352fs
c.1054_1055fs
4 papers
NM_001082971.2
p.G354C
c.1060G>T
3 papers
NM_001082971.2
p.G354S
c.1060G>A
3 papers
NM_001082971.2
p.G354D
c.1061G>A
5 papers
NM_001082971.2
p.R355insFs
c.1063dupA
1 paper
NM_001082971.2
p.R355K
c.1064G>A
4 papers
NM_001082971.2
p.R356del1
c.1066_1067delTCT
1 paper
NM_001082971.2
p.H348L
c.1043A>T
5 papers
NM_001082971.2
p.R358C
c.1072C>T
1 paper
NM_001082971.2
p.R358G
c.1072C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."