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

43 papers

NM_000787.4

p.K148K

c.444G>A

Surrounding Variants

1 paper

NM_000787.4

p.P156insFs

c.468dupC

1 paper

NM_000787.4

p.K157fs

c.469_470fs

1 paper

NM_000787.4

p.D158N

c.472G>A

1 paper

NM_000787.4

p.R138R

c.412A>C

1 paper

NM_000787.4

p.L160F

c.478C>T

1 paper

NM_000787.4

p.E162E

c.486A>G

1 paper

NM_000787.4

p.P127P

c.381C>T

3 papers

NM_000787.4

p.D114E

c.342C>A

3 papers

NM_000787.4

p.D114E

c.342C>G

1 paper

NM_000787.4

p.G164S

c.490G>A

1 paper

NM_000787.4

p.G171R

c.511G>A

1 paper

NM_000787.4

p.G171R

c.511G>C