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.E20K

c.58G>A

Surrounding Variants

1 paper

NM_001091.4

p.E20*

c.58G>T

1 paper

NM_001091.4

p.A19A

c.57G>A

1 paper

NM_001091.4

p.E20E

c.60G>A

1 paper

NM_001091.4

p.P21A

c.61C>G

1 paper

NM_001091.4

p.P23_G24delFs

c.68_71del4

1 paper

NM_001091.4

p.A17T

c.49G>A

19 papers

NM_001091.4

p.T16M

c.47C>T

1 paper

NM_001091.4

p.G24R

c.70G>A

1 paper

NM_001091.4

p.L14L

c.42G>A

1 paper

NM_001091.4

p.P27S

c.79C>T

1 paper

NM_001091.4

p.A10S

c.28G>T

1 paper

NM_001091.4

p.A30V

c.89C>T