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

19 papers

NM_001091.4

p.H645D

c.1933C>G

Surrounding Variants

1 paper

NM_001091.4

p.H639R

c.1916A>G

1 paper

NM_001091.4

p.S636I

c.1907G>T

1 paper

NM_001091.4

p.S634G

c.1900A>G

2 papers

NM_001091.4

p.E658K

c.1972G>A

2 papers

NM_001091.4

p.N659H

c.1975A>C

1 paper

NM_001091.4

p.S630L

c.1889C>T

1 paper

NM_001091.4

p.I660T

c.1979T>C

1 paper

NM_001091.4

p.Y627C

c.1880A>G

1 paper

NM_001091.4

p.A667T

c.1999G>A

4 papers

NM_001091.4

p.P677A

c.2029C>G

1 paper

NM_001091.4

p.A686T

c.2056G>A

1 paper

NM_001091.4

p.V692M

c.2074G>A