Varaico: Literature-Extracted Genetic Variants

Gene:DDC
Variant:p.R285W

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
17 papers
NM_001082971.2
p.R285W
c.853C>T
Surrounding Variants
1 paper
NM_001082971.2
p.H286Y
c.856C>T
3 papers
NM_001082971.2
p.E283D
c.849G>T
4 papers
NM_001082971.2
p.E283D
c.849G>C
10 papers
NM_001082971.2
p.E283A
c.848A>C
1 paper
NM_001082971.2
p.E283*
c.847G>T
1 paper
NM_001082971.2
p.P282_E283insFs
c.846_847insC
6 papers
NM_001082971.2
p.L288P
c.863T>C
9 papers
NM_001082971.2
p.C281W
c.843C>G
1 paper
NM_001082971.2
p.C281Y
c.842G>A
2 papers
NM_001082971.2
p.C281R
c.841T>C
1 paper
NM_001082971.2
p.G290A
c.869G>C
2 papers
NM_001082971.2
p.G290E
c.869G>A
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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."