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.G480S

c.1438G>A

Surrounding Variants

2 papers

NM_000787.4

p.G482R

c.1444G>A

2 papers

NM_000787.4

p.G482R

c.1444G>C

1 paper

NM_000787.4

p.M487T

c.1460T>C

1 paper

NM_000787.4

p.P496S

c.1486C>T

1 paper

NM_000787.4

p.Q499Q

c.1497G>A

1 paper

NM_000787.4

p.K514R

c.1541A>G

1 paper

NM_000787.4

p.Y515Y

c.1545C>T

1 paper

NM_000787.4

p.R521W

c.1561A>T

2 papers

NM_000787.4

p.R521Splc

c.1562+415A>G

1 paper

NM_000787.4

p.P543T

c.1627C>A

1 paper

NM_000787.4

p.W544S

c.1631G>C

8 papers

NM_000787.4

p.R549C

c.1645C>T