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.V317L

c.949G>C

Surrounding Variants

1 paper

NM_001091.4

p.N315S

c.944A>G

1 paper

NM_001091.4

p.E313D

c.939G>C

1 paper

NM_001091.4

p.E313D

c.939G>T

1 paper

NM_001091.4

p.R311G

c.931A>G

1 paper

NM_001091.4

p.R309H

c.926G>A

1 paper

NM_001091.4

p.R327W

c.979C>T

1 paper

NM_001091.4

p.R327Q

c.980G>A

1 paper

NM_001091.4

p.S331A

c.991T>G

1 paper

NM_001091.4

p.S332A

c.994T>G

16 papers

NM_001091.4

p.S332F

c.995C>T

1 paper

NM_001091.4

p.S332S

c.996C>T

2 papers

NM_001091.4

p.R301C

c.901C>T