Varaico: Literature-Extracted Genetic Variants

AOC1

190 papers

RefSeq Summary

This gene encodes a metal-binding membrane glycoprotein that oxidatively deaminates putrescine, histamine, and related compounds. The encoded protein is inhibited by amiloride, a diuretic that acts by...

Pfam Domains

Cu_amine_oxidN2aa 39–125UCSCCopper amine oxidase, N2 domain

Cu_amine_oxidN3aa 141–241UCSCCopper amine oxidase, N3 domain

Cu_amine_oxidaa 311–716UCSCCopper amine oxidase, enzyme domain

Gene Aliases

HGNC Name

amine oxidase copper containing 1

HGNC Previous Symbols

ABP1; ABP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001091.4

p.R205H

c.614G>A

Surrounding Variants

1 paper

NM_001091.4

p.R205C

c.613C>T

1 paper

NM_001091.4

p.I203L

c.607A>C

1 paper

NM_001091.4

p.I203L

c.607A>T

1 paper

NM_001091.4

p.E208K

c.622G>A

1 paper

NM_001091.4

p.G209G

c.627C>G

1 paper

NM_001091.4

p.R198H

c.593G>A

4 papers

NM_001091.4

p.R197H

c.590G>A

1 paper

NM_001091.4

p.R197C

c.589C>T

1 paper

NM_001091.4

p.L217V

c.649C>G

1 paper

NM_001091.4

p.V192M

c.574G>A

1 paper

NM_001091.4

p.G191A

c.572G>C

1 paper

NM_001091.4

p.V221M

c.661G>A