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

9 papers

NM_000360.4

p.L444P

c.1331T>C

Surrounding Variants

1 paper

NM_000360.4

p.D442_K443delFs

c.1326_1327delTG

1 paper

NM_000360.4

p.R445Splc

c.1334+1G>A

2 papers

NM_199292.3

p.K474*

c.1420A>T

NM_000360.4

p.K443*

c.1327A>T

1 paper

NM_000360.4

p.K443E

c.1327A>G

1 paper

NM_000360.4

p.D442G

c.1325A>G

1 paper

NM_000360.4

p.A440S

c.1318G>T

1 paper

NM_000360.4

p.D439H

c.1315G>C

1 paper

NM_000360.4

p.S438T

c.1313G>C

1 paper

NM_000360.4

p.S438N

c.1313G>A

2 papers

NM_199292.3

p.S467G

c.1399A>G

1 paper

NM_000360.4

p.S436insFs

c.1306_1307insT

1 paper

NM_000360.4

p.V433_E435delFs

c.1297_1304del8