Varaico: Literature-Extracted Genetic Variants

Gene:DDC
Variant:p.M368I

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.M368I
c.1104G>A
Surrounding Variants
1 paper
NM_001082971.2
p.M368I
c.1104G>T
1 paper
NM_001082971.2
p.M368T
c.1103T>C
3 papers
NM_001082971.2
p.Y369C
c.1106A>G
1 paper
NM_001082971.2
p.G370E
c.1109G>A
1 paper
NM_001082971.2
p.F366insFs
c.1097_1098ins4
1 paper
NM_001082971.2
p.F366V
c.1096T>G
2 papers
NM_001082971.2
p.V365I
c.1093G>A
1 paper
NM_001082971.2
p.G373A
c.1118G>C
1 paper
NM_001082971.2
p.W363L
c.1088G>T
1 paper
NM_001082971.2
p.W363R
c.1087T>C
1 paper
NM_001082971.2
p.W363R
c.1087T>A
11 papers
NM_001082971.2
p.M362T
c.1085T>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."