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.E27fs

c.79_80fs

Surrounding Variants

1 paper

NM_000360.4

p.E27Q

c.79G>C

1 paper

NM_000360.4

p.E27K

c.79G>A

1 paper

NM_000360.4

p.A26delFs

c.78delT

1 paper

NM_000360.4

p.Q25L

c.74A>T

3 papers

NM_000360.4

p.Q25E

c.73C>G

1 paper

NM_000360.4

p.I29I

c.87C>A

1 paper

NM_000360.4

p.A23A

c.69C>T

4 papers

NM_000360.4

p.A23T

c.67G>A

1 paper

NM_000360.4

p.M30_S31Splc

c.90+2T>C

1 paper

NM_000360.4

p.E20delFs

c.58_59delTC

4 papers

NM_000360.4

p.S19C

c.56C>G

1 paper

NM_000360.4

p.V18M

c.52G>A