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.E562K

c.1684G>A

Surrounding Variants

1 paper

NM_001091.4

p.R563C

c.1687C>T

1 paper

NM_001091.4

p.S560P

c.1678T>C

1 paper

NM_001091.4

p.A566T

c.1696G>A

1 paper

NM_001091.4

p.Q556H

c.1668G>C

1 paper

NM_001091.4

p.Q556H

c.1668G>T

1 paper

NM_001091.4

p.Q556R

c.1667A>G

2 papers

NM_001091.4

p.R568S

c.1702C>A

2 papers

NM_001091.4

p.R568C

c.1702C>T

2 papers

NM_001091.4

p.R571T

c.1712G>C

1 paper

NM_001091.4

p.P552S

c.1654C>T

1 paper

NM_001091.4

p.K572T

c.1715A>C

1 paper

NM_001091.4

p.K575T

c.1724A>C