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_199292.3

p.S465P

c.1393T>C

Surrounding Variants

1 paper

NM_000360.4

p.V433L

c.1297G>T

1 paper

NM_000360.4

p.V433L

c.1297G>C

1 paper

NM_000360.4

p.F432del1

c.1294_1296delGAA

1 paper

NM_000360.4

p.E435V

c.1304A>T

1 paper

NM_000360.4

p.E435A

c.1304A>C

2 papers

NM_199292.3

p.S467G

c.1399A>G

1 paper

NM_000360.4

p.S436insFs

c.1306_1307insT

1 paper

NM_000360.4

p.V433_E435delFs

c.1297_1304del8

1 paper

NM_000360.4

p.V430del1

c.1288_1290delGAC

1 paper

NM_000360.4

p.S438T

c.1313G>C

1 paper

NM_000360.4

p.S438N

c.1313G>A

1 paper

NM_000360.4

p.D439H

c.1315G>C