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.V374_E375delins

c.1122_1123delinsTT

Surrounding Variants

2 papers

NM_199292.3

p.E406*

c.1216G>T

NM_000360.4

p.E375*

c.1123G>T

1 paper

NM_000360.4

p.E375Q

c.1123G>C

1 paper

NM_000360.4

p.E375fs

c.1123_1124fs

1 paper

NM_000360.4

p.E375fs

c.1123_1124fs

2 papers

NM_000360.4

p.E375delFs

c.1125delC

1 paper

NM_000360.4

p.V374M

c.1120G>A

1 paper

NM_000360.4

p.T373K

c.1118C>A

2 papers

NM_199292.3

p.G408R

c.1222G>C

2 papers

NM_199292.3

p.G408R

c.1222G>A

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.K380*

c.1138A>T