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.P312insFs

c.936dupA

Surrounding Variants

1 paper

NM_000787.4

p.P312_E313insFs

c.936_937insT

1 paper

NM_000787.4

p.E313D

c.939G>C

1 paper

NM_000787.4

p.E313D

c.939G>T

1 paper

NM_000787.4

p.Y310insFs

c.930dupC

1 paper

NM_000787.4

p.E314G

c.941A>G

1 paper

NM_000787.4

p.Y311_P312delFs

c.931_935del5

2 papers

NM_000787.4

p.L317P

c.950T>C

1 paper

NM_000787.4

p.A318T

c.952G>A

4 papers

NM_000787.4

p.A318S

c.952G>T

1 paper

NM_000787.4

p.F319L

c.955T>C

1 paper

NM_000787.4

p.F319F

c.957C>T

2 papers

NM_000787.4

p.K307_A308Splc

c.921+601C>T