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.A357T

c.1069G>A

Surrounding Variants

1 paper

NM_001091.4

p.V356M

c.1066G>A

1 paper

NM_001091.4

p.Y359del1

c.1075_1076delTAT

1 paper

NM_001091.4

p.A365T

c.1093G>A

1 paper

NM_001091.4

p.Y348F

c.1043A>T

2 papers

NM_001091.4

p.G366A

c.1097G>C

2 papers

NM_001091.4

p.R345P

c.1034G>C

1 paper

NM_001091.4

p.G342D

c.1025G>A

1 paper

NM_001091.4

p.V339G

c.1016T>G

1 paper

NM_001091.4

p.G375R

c.1123G>C

1 paper

NM_001091.4

p.N338N

c.1014C>T

1 paper

NM_001091.4

p.V336I

c.1006G>A

1 paper

NM_001091.4

p.G379insFs

c.1135_1136insA