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

10 papers

NM_199292.3

p.T494M

c.1481C>T

NM_000360.4

p.T463M

c.1388C>T

Surrounding Variants

1 paper

NM_199292.3

p.T494P

c.1480A>C

4 papers

NM_199292.3

p.P492L

c.1475C>T

NM_000360.4

p.P461L

c.1382C>T

1 paper

NM_199292.3

p.P492Q

c.1475C>A

2 papers

NM_199292.3

p.D491H

c.1471G>C

1 paper

NM_000360.4

p.D460N

c.1378G>A

1 paper

NM_000360.4

p.F459L

c.1377C>G

1 paper

NM_000360.4

p.F459L

c.1377C>A

1 paper

NM_000360.4

p.F459C

c.1376T>G

7 papers

NM_199292.3

p.D498G

c.1493A>G

NM_000360.4

p.D467G

c.1400A>G

1 paper

NM_000360.4

p.F459L

c.1375T>C

7 papers

NM_000360.4

p.V468M

c.1402G>A

NM_199292.3

p.V499M

c.1495G>A

1 paper

NM_000360.4

p.S456_V457insFs

c.1368_1369insC