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.A58_A59del2

c.172_176del6

Surrounding Variants

1 paper

NM_000360.4

p.V60A

c.179T>C

3 papers

NM_000360.4

p.V60L

c.178G>C

1 paper

NM_000360.4

p.V60I

c.178G>A

1 paper

NM_000360.4

p.A59V

c.176C>T

2 papers

NM_000360.4

p.A56_S62ins2

c.168_185dup18

1 paper

NM_000360.4

p.A56delFs

c.167_168delCG

1 paper

NM_000360.4

p.A56A

c.168G>A

1 paper

NM_199292.3

p.A87V

c.260C>T

2 papers

NM_000360.4

p.A56P

c.166G>C

2 papers

NM_000360.4

p.A56T

c.166G>A

1 paper

NM_000360.4

p.G65W

c.193G>T

1 paper

NM_000360.4

p.A54_A55insFs

c.162_163insA