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.Q271P

c.812A>C

Surrounding Variants

1 paper

NM_000360.4

p.Q271Q

c.813G>A

1 paper

NM_000360.4

p.Q271K

c.811C>A

3 papers

NM_199292.3

p.P301A

c.901C>G

1 paper

NM_199292.3

p.E304K

c.910G>A

1 paper

NM_000360.4

p.I269N

c.806T>A

1 paper

NM_000360.4

p.E273A

c.818A>C

1 paper

NM_000360.4

p.E273E

c.819G>A

1 paper

NM_000360.4

p.D274N

c.820G>A

1 paper

NM_000360.4

p.V275F

c.823G>T

1 paper

NM_000360.4

p.D267E

c.801C>G

1 paper

NM_000360.4

p.D267E

c.801C>A

1 paper

NM_000360.4

p.V275G

c.824T>G