Varaico: Literature-Extracted Genetic Variants

Gene:DDC
Variant:p.P40Q

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.P40Q
c.119C>A
Surrounding Variants
2 papers
NM_001082971.2
p.L41M
c.121C>A
3 papers
NM_001082971.2
p.R39P
c.116G>C
1 paper
NM_001082971.2
p.R39Q
c.116G>A
1 paper
NM_001082971.2
p.R39W
c.115C>T
7 papers
NM_001082971.2
p.L38P
c.113T>C
1 paper
NM_001082971.2
p.P43fs
c.127_128fs
2 papers
NM_001082971.2
p.Y37*
c.111C>A
1 paper
NM_001082971.2
p.P43T
c.127C>A
4 papers
NM_001082971.2
p.P43delFs
c.127delG
2 papers
NM_001082971.2
p.P35_P43del0
c.104_127del24
4 papers
NM_001082971.2
p.Y37fs
c.109_110fs
1 paper
NM_001082971.2
p.G36E
c.107G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."