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.E135E

c.405G>A

Surrounding Variants

2 papers

NM_000360.4

p.V136M

c.406G>A

1 paper

NM_199292.3

p.V167E

c.500T>A

1 paper

NM_000360.4

p.V136V

c.408G>T

1 paper

NM_000360.4

p.L134P

c.401T>C

2 papers

NM_000360.4

p.R137C

c.409C>T

1 paper

NM_000360.4

p.R137H

c.410G>A

1 paper

NM_000360.4

p.L134_E135ins5

c.400_404ins15

4 papers

NM_199292.3

p.R169*

c.505C>T

NM_199293.3

p.R165*

c.493C>T

NM_000360.4

p.R138*

c.412C>T

1 paper

NM_000360.4

p.R138L

c.413G>T

4 papers

NM_000360.4

p.R133C

c.397C>T

1 paper

NM_000360.4

p.R137_R138delFs

c.410_413del4

2 papers

NM_000360.4

p.G139R

c.415G>C