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

2 papers

NM_000787.4

p.L397_A398Splc

c.1191+4A>T

Surrounding Variants

1 paper

NM_000787.4

p.T395P

c.1183A>C

1 paper

NM_000787.4

p.Y389*

c.1167C>A

1 paper

NM_000787.4

p.Y389*

c.1167C>G

1 paper

NM_000787.4

p.T387I

c.1160C>T

1 paper

NM_000787.4

p.F384F

c.1152C>T

1 paper

NM_000787.4

p.P373R

c.1118C>G

2 papers

NM_000787.4

p.A362E

c.1085C>A

2 papers

NM_000787.4

p.A362V

c.1085C>T

1 paper

NM_000787.4

p.R359L

c.1076G>T

5 papers

NM_000787.4

p.D345N

c.1033G>A

1 paper

NM_000787.4

p.R343*

c.1027C>T

1 paper

NM_000787.4

p.G342Splc

c.1025-6T>A