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.E96V

c.287A>T

Surrounding Variants

1 paper

NM_001091.4

p.R98C

c.292C>T

2 papers

NM_001091.4

p.E90Q

c.268G>C

1 paper

NM_001091.4

p.E107G

c.320A>G

1 paper

NM_001091.4

p.T112A

c.334A>G

1 paper

NM_001091.4

p.E113K

c.337G>A

3 papers

NM_001091.4

p.F114S

c.341T>C

1 paper

NM_001091.4

p.P77P

c.231C>G

1 paper

NM_001091.4

p.A115V

c.344C>T

1 paper

NM_001091.4

p.L76L

c.228G>C

1 paper

NM_001091.4

p.T68S

c.203C>G

1 paper

NM_001091.4

p.T68S

c.202A>T

1 paper

NM_001091.4

p.T68_L71del4

c.202_212del12