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.D5V

c.14A>T

Surrounding Variants

7 papers

NM_000360.4

p.A6T

c.16G>A

1 paper

NM_000360.4

p.A6insFs

c.16_17insG

1 paper

NM_000360.4

p.P4A

c.10C>G

1 paper

NM_000360.4

p.A6_T7insFs

c.18_19insG

1 paper

NM_000360.4

p.T7S

c.20C>G

1 paper

NM_000360.4

p.T3S

c.8C>G

1 paper

NM_000360.4

p.T7T

c.21C>G

1 paper

NM_000360.4

p.T3S

c.7A>T

1 paper

NM_000360.4

p.T3A

c.7A>G

2 papers

NM_000360.4

p.P2L

c.5C>T

1 paper

NM_000360.4

p.M1_P2insFs

c.3_4insGG

1 paper

NM_000360.4

p.P2ins1

c.4_5insTAC