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.V692M

c.2074G>A

Surrounding Variants

1 paper

NM_001091.4

p.V692fs

c.2074_2075fs

1 paper

NM_001091.4

p.F694Y

c.2081T>A

1 paper

NM_001091.4

p.A686T

c.2056G>A

1 paper

NM_001091.4

p.E704G

c.2111A>G

4 papers

NM_001091.4

p.P677A

c.2029C>G

1 paper

NM_001091.4

p.A709T

c.2125G>A

1 paper

NM_001091.4

p.A667T

c.1999G>A

1 paper

NM_001091.4

p.R719W

c.2155C>T

1 paper

NM_001091.4

p.R728C

c.2182C>T

1 paper

NM_001091.4

p.E732K

c.2194G>A

1 paper

NM_001091.4

p.D735N

c.2203G>A

1 paper

NM_001091.4

p.P741delFs

c.2222delC