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.E384delFs

c.1152delC

Surrounding Variants

1 paper

NM_000360.4

p.E384A

c.1151A>C

1 paper

NM_000360.4

p.G383E

c.1148G>A

1 paper

NM_000360.4

p.N382_G383del1

c.1145_1147delCGT

1 paper

NM_000360.4

p.A387V

c.1160C>T

4 papers

NM_000360.4

p.A387D

c.1160C>A

1 paper

NM_000360.4

p.G383W

c.1147G>T

4 papers

NM_199292.3

p.G414R

c.1240G>C

4 papers

NM_199292.3

p.G414R

c.1240G>A

1 paper

NM_000360.4

p.N382del1

c.1144_1145delGTT

1 paper

NM_000360.4

p.N382K

c.1146C>G

1 paper

NM_000360.4

p.N382K

c.1146C>A

1 paper

NM_000360.4

p.N382D

c.1144A>G