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.R453C

c.1357C>T

Surrounding Variants

1 paper

NM_000360.4

p.R453G

c.1357C>G

1 paper

NM_000360.4

p.R453S

c.1357C>A

1 paper

NM_000360.4

p.R453H

c.1358G>A

1 paper

NM_000360.4

p.S449_R453delFs

c.1347_1357del11

1 paper

NM_000360.4

p.I451delFs

c.1353delG

1 paper

NM_000360.4

p.Q452*

c.1354C>T

1 paper

NM_000360.4

p.I451_Q452insFs

c.1353_1354insT

1 paper

NM_000360.4

p.I451_Q452insFs

c.1353_1354ins7

1 paper

NM_000360.4

p.F455I

c.1363T>A

2 papers

NM_000360.4

p.F455S

c.1364T>C

1 paper

NM_000360.4

p.R450C

c.1348C>T

1 paper

NM_000360.4

p.S456_V457insFs

c.1368_1369insC