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.N97D

c.289A>G

Surrounding Variants

1 paper

NM_000787.4

p.E96K

c.286G>A

2 papers

NM_000787.4

p.L100L

c.300C>A

1 paper

NM_000787.4

p.G93V

c.278G>T

3 papers

NM_000787.4

p.V101M

c.301G>A

2 papers

NM_000787.4

p.V102M

c.304G>A

1 paper

NM_000787.4

p.D91G

c.272A>G

1 paper

NM_000787.4

p.T105I

c.314C>T

7 papers

NM_000787.4

p.G88A

c.263G>C

1 paper

NM_000787.4

p.L86V

c.256C>G

1 paper

NM_000787.4

p.L86_F87insFs

c.256_260dup5

2 papers

NM_000787.4

p.G84R

c.250G>C

1 paper

NM_000787.4

p.A83_F87ins1

c.249_260dup12