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.N434Y

c.1300A>T

Surrounding Variants

1 paper

NM_001091.4

p.Y442ins13

c.1324_1325ins39

1 paper

NM_001091.4

p.A443A

c.1329G>A

1 paper

NM_001091.4

p.P422H

c.1265C>A

1 paper

NM_001091.4

p.E420K

c.1258G>A

1 paper

NM_001091.4

p.C417G

c.1249T>G

1 paper

NM_001091.4

p.L452M

c.1354C>A

1 paper

NM_001091.4

p.N460S

c.1379A>G

1 paper

NM_001091.4

p.D407N

c.1219G>A

1 paper

NM_001091.4

p.H402R

c.1205A>G

1 paper

NM_001091.4

p.F397S

c.1190T>C

1 paper

NM_001091.4

p.P471L

c.1412C>T

1 paper

NM_001091.4

p.T396P

c.1186A>C