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

1–12 of 595 variants

51 papers

NM_000360.4

p.Q381K

c.1141C>A

45 papers

NM_000360.4

p.V81M

c.241G>A

41 papers

NM_000360.4

p.L205P

c.614T>C

18 papers

NM_199292.3

p.R233H

c.698G>A

17 papers

NM_000360.4

p.R202H

c.605G>A

13 papers

NM_000360.4

p.S97delFs

c.291delG

9 papers

NM_000360.4

p.L444P

c.1331T>C

8 papers

NM_000360.4

p.A247T

c.739G>A

7 papers

NM_000360.4

p.A6T

c.16G>A

7 papers

NM_199292.3

p.L236P

c.707T>C

7 papers

NM_199292.3

p.T494M

c.1481C>T

6 papers

NM_000360.4

p.R122*

c.364C>T