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.G263fs

c.787_788fs

Surrounding Variants

1 paper

NM_000360.4

p.G263C

c.787G>T

4 papers

NM_199292.3

p.G294R

c.880G>C

1 paper

NM_000360.4

p.G263G

c.789C>A

1 paper

NM_000360.4

p.G263delFs

c.788delC

1 paper

NM_000360.4

p.R260delFs

c.780delG

1 paper

NM_000360.4

p.R265W

c.793C>T

1 paper

NM_000360.4

p.F261fs

c.781_782fs

1 paper

NM_199292.3

p.R296Q

c.887G>A

1 paper

NM_000360.4

p.E259E

c.777G>A

2 papers

NM_000360.4

p.E259G

c.776A>G

1 paper

NM_000360.4

p.E259K

c.775G>A

1 paper

NM_000360.4

p.E266delFs

c.797delT