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.L334P

c.1001T>C

Surrounding Variants

1 paper

NM_001091.4

p.G333E

c.998G>A

1 paper

NM_001091.4

p.S332S

c.996C>T

1 paper

NM_001091.4

p.V336I

c.1006G>A

16 papers

NM_001091.4

p.S332F

c.995C>T

1 paper

NM_001091.4

p.S332A

c.994T>G

1 paper

NM_001091.4

p.S331A

c.991T>G

1 paper

NM_001091.4

p.N338N

c.1014C>T

1 paper

NM_001091.4

p.V339G

c.1016T>G

1 paper

NM_001091.4

p.R327Q

c.980G>A

1 paper

NM_001091.4

p.R327W

c.979C>T

1 paper

NM_001091.4

p.G342D

c.1025G>A

2 papers

NM_001091.4

p.R345P

c.1034G>C