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.K76*

c.226A>T

Surrounding Variants

1 paper

NM_000360.4

p.K76Q

c.226A>C

1 paper

NM_000360.4

p.E75_K76delFs

c.224_227del4

1 paper

NM_000360.4

p.E75A

c.224A>C

1 paper

NM_000360.4

p.E77delFs

c.230delT

1 paper

NM_000360.4

p.G78R

c.232G>A

1 paper

NM_000360.4

p.G78G

c.234G>T

2 papers

NM_000360.4

p.A80T

c.238G>A

47 papers

NM_199292.3

p.V112M

c.334G>A

NM_000360.4

p.V81M

c.241G>A

1 paper

NM_000360.4

p.V81A

c.242T>C

3 papers

NM_000360.4

p.L82R

c.245T>G

1 paper

NM_000360.4

p.E69V

c.206A>T

1 paper

NM_199292.3

p.L99fs

c.295_296fs