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.G125delFs

c.373delC

Surrounding Variants

1 paper

NM_000360.4

p.A118_G125delFs

c.352_374del23

1 paper

NM_000360.4

p.G124A

c.371G>C

1 paper

NM_000360.4

p.H127Y

c.379C>T

1 paper

NM_000360.4

p.L128Q

c.383T>A

1 paper

NM_000360.4

p.R122L

c.365G>T

11 papers

NM_199292.3

p.R153*

c.457C>T

NM_000360.4

p.R122*

c.364C>T

1 paper

NM_000360.4

p.G125_E129insFs

c.374_387dup14

1 paper

NM_000360.4

p.Y130fs

c.388_389fs

1 paper

NM_000360.4

p.R120R

c.360G>A

1 paper

NM_000360.4

p.F131V

c.391T>G

1 paper

NM_000360.4

p.R120G

c.358A>G

1 paper

NM_000360.4

p.Q119R

c.356A>G