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

3 papers

NM_001091.4

p.T592delins

c.1775_1776delinsGC

Surrounding Variants

5 papers

NM_001091.4

p.T592R

c.1775C>G

3 papers

NM_001091.4

p.T592S

c.1774A>T

1 paper

NM_001091.4

p.R591H

c.1772G>A

1 paper

NM_001091.4

p.E584D

c.1752G>C

1 paper

NM_001091.4

p.E584D

c.1752G>T

1 paper

NM_001091.4

p.S581N

c.1742G>A

1 paper

NM_001091.4

p.K575T

c.1724A>C

1 paper

NM_001091.4

p.K572T

c.1715A>C

2 papers

NM_001091.4

p.R571T

c.1712G>C

1 paper

NM_001091.4

p.A614V

c.1841C>T

2 papers

NM_001091.4

p.R568S

c.1702C>A

2 papers

NM_001091.4

p.R568C

c.1702C>T