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.R49delFs

c.145delG

Surrounding Variants

1 paper

NM_000360.4

p.A51T

c.151G>A

1 paper

NM_000360.4

p.K47E

c.139A>G

2 papers

NM_000360.4

p.A52T

c.154G>A

1 paper

NM_000360.4

p.R46P

c.137G>C

1 paper

NM_000360.4

p.V53M

c.157G>A

1 paper

NM_000360.4

p.A45insFs

c.134_135ins5

1 paper

NM_000360.4

p.D44D

c.132C>T

1 paper

NM_000360.4

p.D44E

c.132C>G

1 paper

NM_000360.4

p.D44V

c.131A>T

1 paper

NM_000360.4

p.D44G

c.131A>G

1 paper

NM_000360.4

p.D44N

c.130G>A

1 paper

NM_000360.4

p.A54_A55insFs

c.162_163insA