Varaico: Literature-Extracted Genetic Variants

AOC3

75 papers

RefSeq Summary

This gene encodes a member of the semicarbazide-sensitive amine oxidase family. Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes in the presence of copper and quinone cof...

Pfam Domains

Cu_amine_oxidN2aa 66–152UCSCCopper amine oxidase, N2 domain

Cu_amine_oxidN3aa 169–269UCSCCopper amine oxidase, N3 domain

Cu_amine_oxidaa 324–726UCSCCopper amine oxidase, enzyme domain

Gene Aliases

HGNC Name

amine oxidase copper containing 3

HGNC Alias Symbols

VAP1; HPAO; VAP-1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 120 variants

3 papers

NM_003734.4

p.R329Q

c.986G>A

3 papers

NM_003734.4

p.V352I

c.1054G>A

2 papers

NM_003734.4

p.L79fs

c.235_236fs

2 papers

NM_003734.4

p.R153W

c.457C>T

2 papers

NM_003734.4

p.Y384C

c.1151A>G

1 paper

NM_003734.4

p.Q3*

c.7C>T

1 paper

NM_003734.4

p.I11I

c.33T>A

1 paper

NM_003734.4

p.L12L

c.34C>T

1 paper

NM_003734.4

p.V14A

c.41T>C

1 paper

NM_003734.4

p.A19V

c.56C>T

1 paper

NM_003734.4

p.G27delFs

c.81delC

1 paper

NM_003734.4

p.G33G

c.99T>A