Varaico: Literature-Extracted Genetic Variants

DBH

248 papers

RefSeq Summary

The protein encoded by this gene is an oxidoreductase belonging to the copper type II, ascorbate-dependent monooxygenase family. The encoded protein, expressed in neuroscretory vesicles and chromaffin...

Pfam Domains

DOMONaa 55–173UCSCDOMON domain

Cu2_monooxygenaa 214–341UCSCCopper type II ascorbate-dependent monooxygenase, N-terminal domain

Cu2_monoox_Caa 360–516UCSCCopper type II ascorbate-dependent monooxygenase, C-terminal domain

Gene Aliases

HGNC Name

dopamine beta-hydroxylase

HGNC Alias Symbol

DBM

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000787.4

p.H564fs

c.1690_1691fs

Surrounding Variants

1 paper

NM_000787.4

p.M563T

c.1688T>C

1 paper

NM_000787.4

p.H564_N566delFs

c.1692_1696del5

1 paper

NM_000787.4

p.N566S

c.1697A>G

1 paper

NM_000787.4

p.A559V

c.1676C>T

1 paper

NM_000787.4

p.Y556C

c.1667A>G

1 paper

NM_000787.4

p.L552M

c.1654C>A

8 papers

NM_000787.4

p.R549C

c.1645C>T

1 paper

NM_000787.4

p.W544S

c.1631G>C

1 paper

NM_000787.4

p.P543T

c.1627C>A

2 papers

NM_000787.4

p.R521Splc

c.1562+415A>G

1 paper

NM_000787.4

p.R521W

c.1561A>T

1 paper

NM_000787.4

p.Y515Y

c.1545C>T