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.F20L

c.58T>C

Surrounding Variants

1 paper

NM_000787.4

p.F20L

c.60C>A

1 paper

NM_000787.4

p.F20L

c.60C>G

1 paper

NM_000787.4

p.S23N

c.68G>A

1 paper

NM_000787.4

p.R16W

c.46C>T

6 papers

NM_000787.4

p.V26M

c.76G>A

1 paper

NM_000787.4

p.V26V

c.78G>T

1 paper

NM_000787.4

p.G12G

c.36C>T

1 paper

NM_000787.4

p.F29I

c.85T>A

2 papers

NM_000787.4

p.S9G

c.25A>G

1 paper

NM_000787.4

p.L33L

c.97C>T

1 paper

NM_000787.4

p.A35A

c.105C>T

1 paper

NM_000787.4

p.M1T

c.2T>C