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.G164S

c.490G>A

Surrounding Variants

1 paper

NM_000787.4

p.G171R

c.511G>A

1 paper

NM_000787.4

p.G171R

c.511G>C

1 paper

NM_000787.4

p.G171E

c.512G>A

1 paper

NM_000787.4

p.L173delFs

c.519delG

1 paper

NM_000787.4

p.S186*

c.557C>A

2 papers

NM_000787.4

p.V195M

c.583G>A

3 papers

NM_000787.4

p.N201S

c.602A>G

1 paper

NM_000787.4

p.P203insFs

c.608dupC

1 paper

NM_000787.4

p.P205T

c.613C>A

1 paper

NM_000787.4

p.E206delFs

c.617delA

2 papers

NM_000787.4

p.E206fs

c.616_617fs

1 paper

NM_000787.4

p.E206insFs

c.617_618insT