Varaico: Literature-Extracted Genetic Variants

Gene:DDC
Variant:p.A191T

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
3 papers
NM_001082971.2
p.A191T
c.571G>A
Surrounding Variants
1 paper
NM_001082971.2
p.Q190_A191Splc
c.571-1G>T
1 paper
NM_001082971.2
p.H192Y
c.574C>T
3 papers
NM_001082971.2
p.Q190_A191Splc
c.571-3C>G
2 papers
NM_001082971.2
p.H192Q
c.576C>G
2 papers
NM_001082971.2
p.H192Q
c.576C>A
1 paper
NM_001082971.2
p.H192delFs
c.575delT
2 papers
NM_001082971.2
p.S193A
c.577T>G
1 paper
NM_001082971.2
p.S193T
c.577T>A
1 paper
NM_001082971.2
p.S193F
c.578C>T
1 paper
NM_001082971.2
p.V195M
c.583G>A
3 papers
NM_001082971.2
p.A198T
c.592G>A
1 paper
NM_001082971.2
p.G199V
c.596G>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."