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

2 papers

NM_000360.4

p.A143T

c.427G>A

Surrounding Variants

1 paper

NM_000360.4

p.A142T

c.424G>A

1 paper

NM_199292.3

p.L175P

c.524T>C

1 paper

NM_000360.4

p.L141R

c.422T>G

1 paper

NM_000360.4

p.L141M

c.421C>A

1 paper

NM_199292.3

p.L175delFs

c.525delC

1 paper

NM_000360.4

p.L145R

c.434T>G

1 paper

NM_000360.4

p.G139A

c.416G>C

2 papers

NM_000360.4

p.G139R

c.415G>C

1 paper

NM_000360.4

p.G139R

c.415G>A

1 paper

NM_000360.4

p.G147D

c.440G>A

1 paper

NM_000360.4

p.R137_R138delFs

c.410_413del4

1 paper

NM_000360.4

p.R138L

c.413G>T