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

1–12 of 164 variants

43 papers

NM_000787.4

p.K148K

c.444G>A

12 papers

NM_000787.4

p.A113_D114Splc

c.339+2T>C

8 papers

NM_000787.4

p.R549C

c.1645C>T

7 papers

NM_000787.4

p.G88A

c.263G>C

6 papers

NM_000787.4

p.V26M

c.76G>A

5 papers

NM_000787.4

p.D345N

c.1033G>A

4 papers

NM_000787.4

p.A211T

c.631G>A

4 papers

NM_000787.4

p.K248_Y249Splc

c.744+8C>T

4 papers

NM_000787.4

p.A318S

c.952G>T

3 papers

NM_000787.4

p.R79W

c.235C>T

3 papers

NM_000787.4

p.V101M

c.301G>A

3 papers

NM_000787.4

p.D114E

c.342C>A