Varaico: Literature-Extracted Genetic Variants

Gene:DDC
Variant:p.Y37fs

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
4 papers
NM_001082971.2
p.Y37fs
c.109_110fs
Surrounding Variants
1 paper
NM_001082971.2
p.G36E
c.107G>A
2 papers
NM_001082971.2
p.Y37*
c.111C>A
7 papers
NM_001082971.2
p.G36R
c.106G>C
8 papers
NM_001082971.2
p.G36R
c.106G>A
9 papers
NM_001082971.2
p.P35delFs
c.105delG
7 papers
NM_001082971.2
p.L38P
c.113T>C
1 paper
NM_001082971.2
p.R39W
c.115C>T
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.P40Q
c.119C>A
5 papers
NM_001082971.2
p.V33L
c.97G>T
6 papers
NM_001082971.2
p.V33L
c.97G>C
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