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.P117L

c.350C>T

Surrounding Variants

1 paper

NM_000360.4

p.P117R

c.350C>G

1 paper

NM_000360.4

p.P117S

c.349C>T

1 paper

NM_000360.4

p.A118T

c.352G>A

2 papers

NM_000360.4

p.R116Q

c.347G>A

1 paper

NM_000360.4

p.T115_A118delFs

c.343_352del10

1 paper

NM_000360.4

p.Q119R

c.356A>G

1 paper

NM_000360.4

p.R120G

c.358A>G

1 paper

NM_000360.4

p.R120R

c.360G>A

1 paper

NM_000360.4

p.E114K

c.340G>A

1 paper

NM_000360.4

p.L113P

c.338T>C

11 papers

NM_199292.3

p.R153*

c.457C>T

NM_000360.4

p.R122*

c.364C>T

1 paper

NM_000360.4

p.R122L

c.365G>T