Varaico: Literature-Extracted Genetic Variants

Gene:DDC
Variant:p.R347G

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
10 papers
NM_001082971.2
p.R347G
c.1039C>G
Surrounding Variants
3 papers
NM_001082971.2
p.R347W
c.1039C>T
1 paper
NM_001082971.2
p.R347P
c.1040G>C
51 papers
NM_001082971.2
p.R347Q
c.1040G>A
5 papers
NM_001082971.2
p.R347_H348Splc
c.1041+1G>C
2 papers
NM_001082971.2
p.D345A
c.1034A>C
5 papers
NM_001082971.2
p.G341Splc
c.1021+1G>A
1 paper
NM_001082971.2
p.H337R
c.1010A>G
1 paper
NM_001082971.2
p.H337Y
c.1009C>T
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.S336N
c.1007G>A
1 paper
NM_001082971.2
p.S336R
c.1006A>C
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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."