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.K101E

c.301A>G

Surrounding Variants

1 paper

NM_000360.4

p.V100delFs

c.298delC

1 paper

NM_000360.4

p.K101_V102delFs

c.303_304delCC

2 papers

NM_000360.4

p.A99delFs

c.296delG

2 papers

NM_000360.4

p.R98Q

c.293G>A

13 papers

NM_000360.4

p.S97delFs

c.291delG

1 paper

NM_000360.4

p.E104*

c.310G>T

2 papers

NM_199292.3

p.R129*

c.385C>T

1 paper

NM_000360.4

p.S97S

c.291C>A

1 paper

NM_000360.4

p.S97A

c.289T>G

3 papers

NM_000360.4

p.L96L

c.288G>A

1 paper

NM_000360.4

p.L96L

c.286C>T

1 paper

NM_000360.4

p.E104_T105Splc

c.312+5G>C