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

5 papers

NM_000360.4

p.G397R

c.1189G>C

NM_199292.3

p.G428R

c.1282G>C

Surrounding Variants

6 papers

NM_000360.4

p.G397R

c.1189G>A

NM_199292.3

p.G428R

c.1282G>A

1 paper

NM_199292.3

p.Y427H

c.1279T>C

1 paper

NM_000360.4

p.E398_L399insFs

c.1194_1195insC

3 papers

NM_000360.4

p.S395F

c.1184C>T

2 papers

NM_000360.4

p.S395A

c.1183T>G

1 paper

NM_000360.4

p.S395T

c.1183T>A

2 papers

NM_000360.4

p.L399L

c.1197C>T

1 paper

NM_199292.3

p.S425T

c.1273T>A

2 papers

NM_000360.4

p.L400R

c.1199T>G

1 paper

NM_000360.4

p.L393P

c.1178T>C

1 paper

NM_000360.4

p.L392P

c.1175T>C

1 paper

NM_199292.3

p.G422R

c.1264G>C