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.E248K

c.742G>A

Surrounding Variants

1 paper

NM_001091.4

p.D259H

c.775G>C

1 paper

NM_001091.4

p.L263L

c.787C>T

1 paper

NM_001091.4

p.D265Y

c.793G>T

1 paper

NM_001091.4

p.H230fs

c.688_689fs

1 paper

NM_001091.4

p.H230delFs

c.689delA

1 paper

NM_001091.4

p.P268S

c.802C>T

1 paper

NM_001091.4

p.A228S

c.682G>T

1 paper

NM_001091.4

p.G269R

c.805G>A

1 paper

NM_001091.4

p.G269R

c.805G>C

1 paper

NM_001091.4

p.G269G

c.807G>A

1 paper

NM_001091.4

p.G224E

c.671G>A

1 paper

NM_001091.4

p.D222A

c.665A>C