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.Y130fs

c.388_389fs

Surrounding Variants

1 paper

NM_000360.4

p.G125_E129insFs

c.374_387dup14

1 paper

NM_000360.4

p.F131V

c.391T>G

1 paper

NM_000360.4

p.L128Q

c.383T>A

4 papers

NM_000360.4

p.R133C

c.397C>T

1 paper

NM_000360.4

p.H127Y

c.379C>T

1 paper

NM_000360.4

p.L134_E135ins5

c.400_404ins15

1 paper

NM_000360.4

p.L134P

c.401T>C

1 paper

NM_000360.4

p.G125delFs

c.373delC

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.E135E

c.405G>A

2 papers

NM_000360.4

p.V136M

c.406G>A