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.R80G

c.238A>G

Surrounding Variants

1 paper

NM_000787.4

p.R79R

c.237G>C

3 papers

NM_000787.4

p.R79W

c.235C>T

1 paper

NM_000787.4

p.K82K

c.246G>A

1 paper

NM_000787.4

p.A83_F87ins1

c.249_260dup12

1 paper

NM_000787.4

p.A83_M89delFs

c.249_267del19

2 papers

NM_000787.4

p.G84R

c.250G>C

1 paper

NM_000787.4

p.L86_F87insFs

c.256_260dup5

1 paper

NM_000787.4

p.L86V

c.256C>G

1 paper

NM_000787.4

p.H73P

c.218A>C

7 papers

NM_000787.4

p.G88A

c.263G>C

1 paper

NM_000787.4

p.D91G

c.272A>G

1 paper

NM_000787.4

p.T68delFs

c.203delC