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.D179N

c.535G>A

Surrounding Variants

1 paper

NM_001091.4

p.D179A

c.536A>C

2 papers

NM_001091.4

p.D179G

c.536A>G

1 paper

NM_001091.4

p.Q175H

c.525A>T

1 paper

NM_001091.4

p.A183T

c.547G>A

2 papers

NM_001091.4

p.D186N

c.556G>A

1 paper

NM_001091.4

p.G171S

c.511G>A

1 paper

NM_001091.4

p.A188delFs

c.563delC

1 paper

NM_001091.4

p.G191A

c.572G>C

1 paper

NM_001091.4

p.V192M

c.574G>A

1 paper

NM_001091.4

p.Q164*

c.490C>T

1 paper

NM_001091.4

p.L162L

c.486G>C

3 papers

NM_001091.4

p.P161S

c.481C>T