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.G507D

c.1520G>A

Surrounding Variants

1 paper

NM_001091.4

p.N508S

c.1523A>G

1 paper

NM_001091.4

p.H502D

c.1504C>G

1 paper

NM_001091.4

p.Y516C

c.1547A>G

1 paper

NM_001091.4

p.G498S

c.1492G>A

1 paper

NM_001091.4

p.D519N

c.1555G>A

1 paper

NM_001091.4

p.D519H

c.1555G>C

1 paper

NM_001091.4

p.T482delFs

c.1444delA

1 paper

NM_001091.4

p.H480P

c.1439A>C

1 paper

NM_001091.4

p.M479I

c.1437G>A

1 paper

NM_001091.4

p.M479I

c.1437G>C

1 paper

NM_001091.4

p.M479I

c.1437G>T

1 paper

NM_001091.4

p.M479L

c.1435A>C