Varaico: Literature-Extracted Genetic Variants

TH

1,078 papers

RefSeq Summary

The protein encoded by this gene is involved in the conversion of tyrosine to dopamine. It is the rate-limiting enzyme in the synthesis of catecholamines, hence plays a key role in the physiology of a...

Pfam Domains

TOH_Naa 2–26UCSCTyrosine hydroxylase N terminal

TOH_Naa 56–80UCSCTyrosine hydroxylase N terminal

TH_ACTaa 110–179UCSCTyrosine 3-monooxygenase-like, ACT domain

Biopterin_Haa 195–525UCSCBiopterin-dependent aromatic amino acid hydroxylase

Gene Aliases

HGNC Name

tyrosine hydroxylase

HGNC Alias Symbol

DYT5b

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000360.4

p.V18M

c.52G>A

Surrounding Variants

2 papers

NM_000360.4

p.A17V

c.50C>T

4 papers

NM_000360.4

p.S19C

c.56C>G

1 paper

NM_000360.4

p.R16T

c.47G>C

2 papers

NM_000360.4

p.R15L

c.44G>T

4 papers

NM_000360.4

p.R15H

c.44G>A

2 papers

NM_000360.4

p.R15C

c.43C>T

1 paper

NM_000360.4

p.E20delFs

c.58_59delTC

1 paper

NM_000360.4

p.G13G

c.39C>T

1 paper

NM_000360.4

p.G13V

c.38G>T

4 papers

NM_000360.4

p.A23T

c.67G>A

1 paper

NM_000360.4

p.A23A

c.69C>T

1 paper

NM_000360.4

p.K12R

c.35A>G