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.H401Q

c.1203C>A

Surrounding Variants

1 paper

NM_000360.4

p.H401insFs

c.1202_1203insT

1 paper

NM_000360.4

p.S404fs

c.1210_1211fs

1 paper

NM_000360.4

p.S404F

c.1211C>T

1 paper

NM_000360.4

p.S404delFs

c.1212delA

1 paper

NM_000360.4

p.S404_E405delFs

c.1210_1213del4

1 paper

NM_000360.4

p.E406*

c.1216G>T

1 paper

NM_000360.4

p.E406fs

c.1216_1217fs

2 papers

NM_000360.4

p.P407S

c.1219C>T

5 papers

NM_000360.4

p.R410W

c.1228C>T

NM_199292.3

p.R441W

c.1321C>T

3 papers

NM_199292.3

p.R441P

c.1322G>C

NM_000360.4

p.R410P

c.1229G>C

1 paper

NM_000360.4

p.R410Q

c.1229G>A

1 paper

NM_000360.4

p.R410_D413del4

c.1228_1238del12