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.P93A

c.277C>G

Surrounding Variants

1 paper

NM_000360.4

p.P93S

c.277C>T

1 paper

NM_000360.4

p.K92N

c.276G>T

1 paper

NM_000360.4

p.K92M

c.275A>T

1 paper

NM_000360.4

p.S94A

c.280T>G

1 paper

NM_000360.4

p.S94*

c.281C>A

4 papers

NM_000360.4

p.S94S

c.282G>C

2 papers

NM_000360.4

p.S94S

c.282G>A

1 paper

NM_000360.4

p.A95fs

c.283_284fs

1 paper

NM_000360.4

p.A90A

c.270C>T

1 paper

NM_000360.4

p.A95delFs

c.283delC

1 paper

NM_000360.4

p.L96L

c.286C>T

3 papers

NM_000360.4

p.L96L

c.288G>A