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.R507P

c.1520G>C

Surrounding Variants

1 paper

NM_000360.4

p.R476R

c.1428G>T

1 paper

NM_000360.4

p.R476W

c.1426C>T

1 paper

NM_199292.3

p.S502_V506insFs

c.1505_1518dup14

1 paper

NM_000360.4

p.L479L

c.1435C>T

2 papers

NM_199292.3

p.L510Q

c.1529T>A

1 paper

NM_000360.4

p.Q473P

c.1418A>C

2 papers

NM_000360.4

p.E480K

c.1438G>A

1 paper

NM_000360.4

p.D470delins

c.1408_1409delinsAG

7 papers

NM_000360.4

p.V468M

c.1402G>A

NM_199292.3

p.V499M

c.1495G>A

2 papers

NM_000360.4

p.E485K

c.1453G>A

NM_199292.3

p.E516K

c.1546G>A

7 papers

NM_199292.3

p.D498G

c.1493A>G

NM_000360.4

p.D467G

c.1400A>G

10 papers

NM_199292.3

p.T494M

c.1481C>T

NM_000360.4

p.T463M

c.1388C>T