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.A210G

c.629C>G

Surrounding Variants

4 papers

NM_199292.3

p.A241T

c.721G>A

1 paper

NM_000360.4

p.Q212E

c.634C>G

3 papers

NM_000360.4

p.Q212P

c.635A>C

NM_199292.3

p.Q243P

c.728A>C

2 papers

NM_000360.4

p.R214W

c.640A>T

2 papers

NM_199292.3

p.R245M

c.734G>T

3 papers

NM_199292.3

p.H246Y

c.736C>T

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

2 papers

NM_000360.4

p.H215Splc

c.644+1G>A

1 paper

NM_000360.4

p.K204R

c.611A>G

1 paper

NM_000360.4

p.R203K

c.608G>A

1 paper

NM_000360.4

p.R203R

c.607A>C