Varaico: Literature-Extracted Genetic Variants

Gene:DDC
Variant:p.L408I

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
9 papers
NM_001082971.2
p.L408I
c.1222C>A
Surrounding Variants
1 paper
NM_001082971.2
p.V409A
c.1226T>C
3 papers
NM_001082971.2
p.L406Q
c.1217T>A
9 papers
NM_001082971.2
p.C410G
c.1228T>G
2 papers
NM_001082971.2
p.C410Y
c.1229G>A
1 paper
NM_001082971.2
p.F411L
c.1233T>A
3 papers
NM_001082971.2
p.R412fs
c.1234_1235fs
27 papers
NM_001082971.2
p.R412W
c.1234C>T
3 papers
NM_001082971.2
p.F411insFs
c.1233dupT
2 papers
NM_001082971.2
p.F411delFs
c.1233delA
2 papers
NM_001082971.2
p.R412Q
c.1235G>A
1 paper
NM_001082971.2
p.L413insFs
c.1237_1238ins4
1 paper
NM_001082971.2
p.K414N
c.1242G>T
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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."