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

1–12 of 199 variants

19 papers

NM_001091.4

p.T16M

c.47C>T

19 papers

NM_001091.4

p.H645D

c.1933C>G

16 papers

NM_001091.4

p.S332F

c.995C>T

5 papers

NM_001091.4

p.T592R

c.1775C>G

4 papers

NM_001091.4

p.R197H

c.590G>A

4 papers

NM_001091.4

p.P677A

c.2029C>G

3 papers

NM_001091.4

p.F114S

c.341T>C

3 papers

NM_001091.4

p.P161S

c.481C>T

3 papers

NM_001091.4

p.T592S

c.1774A>T

3 papers

NM_001091.4

p.T592delins

c.1775_1776delinsGC

2 papers

NM_001091.4

p.E90Q

c.268G>C

2 papers

NM_001091.4

p.D179G

c.536A>G