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.K380*

c.1138A>T

Surrounding Variants

1 paper

NM_000360.4

p.F376_K380delFs

c.1128_1138del11

53 papers

NM_199292.3

p.Q412K

c.1234C>A

NM_000360.4

p.Q381K

c.1141C>A

1 paper

NM_000360.4

p.N382D

c.1144A>G

1 paper

NM_199292.3

p.G408G

c.1224G>T

2 papers

NM_000360.4

p.G377G

c.1131G>A

1 paper

NM_000360.4

p.N382K

c.1146C>G

1 paper

NM_000360.4

p.N382K

c.1146C>A

1 paper

NM_000360.4

p.G383W

c.1147G>T

4 papers

NM_199292.3

p.G414R

c.1240G>C

2 papers

NM_199292.3

p.G408R

c.1222G>C

4 papers

NM_199292.3

p.G414R

c.1240G>A

2 papers

NM_199292.3

p.G408R

c.1222G>A