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.T245M

c.734C>T

Surrounding Variants

6 papers

NM_199292.3

p.T276P

c.826A>C

NM_000360.4

p.T245P

c.733A>C

4 papers

NM_000360.4

p.H246Y

c.736C>T

1 paper

NM_000360.4

p.A244V

c.731C>T

8 papers

NM_000360.4

p.A247T

c.739G>A

1 paper

NM_199292.3

p.C279F

c.836G>T

3 papers

NM_199292.3

p.L273F

c.817C>T

NM_000360.4

p.L242F

c.724C>T

1 paper

NM_000360.4

p.G249V

c.746G>T

1 paper

NM_000360.4

p.G241D

c.722G>A

1 paper

NM_000360.4

p.G241S

c.721G>A

2 papers

NM_199292.3

p.K271K

c.813G>A

NM_000360.4

p.K240K

c.720G>A

1 paper

NM_000360.4

p.T238_L239delFs

c.714_715delGC

1 paper

NM_000360.4

p.L239fs

c.715_716fs