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

4 papers

NM_199292.3

p.Q232*

c.694C>T

NM_000360.4

p.Q201*

c.601C>T

Surrounding Variants

2 papers

NM_199292.3

p.R231P

c.692G>C

3 papers

NM_199292.3

p.R233C

c.697C>T

NM_000360.4

p.R202C

c.604C>T

34 papers

NM_199292.3

p.R233H

c.698G>A

NM_000360.4

p.R202H

c.605G>A

NM_199293.3

p.R229H

c.686G>A

1 paper

NM_000360.4

p.R202R

c.606C>T

1 paper

NM_000360.4

p.R203R

c.607A>C

1 paper

NM_000360.4

p.R203K

c.608G>A

2 papers

NM_000360.4

p.V198M

c.592G>A

1 paper

NM_000360.4

p.K204R

c.611A>G

1 paper

NM_199292.3

p.L236R

c.707T>G

48 papers

NM_199292.3

p.L236P

c.707T>C

NM_000360.4

p.L205P

c.614T>C

3 papers

NM_199292.3

p.D227G

c.680A>G

1 paper

NM_199292.3

p.D227H

c.679G>C