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

Selected Variant

1 paper

NM_003734.4

p.Y270C

c.809A>G

Surrounding Variants

1 paper

NM_003734.4

p.Y270N

c.808T>A

1 paper

NM_003734.4

p.R269C

c.805C>T

1 paper

NM_003734.4

p.E278G

c.833A>G

1 paper

NM_003734.4

p.Q280R

c.839A>G

1 paper

NM_003734.4

p.L248_A253del0

c.742_759del18

1 paper

NM_003734.4

p.H241_V243del3

c.721_728del9

1 paper

NM_003734.4

p.L302L

c.904C>T

1 paper

NM_003734.4

p.F227Y

c.680T>A

1 paper

NM_003734.4

p.F227I

c.679T>A

1 paper

NM_003734.4

p.L314L

c.942A>G

1 paper

NM_003734.4

p.P318H

c.953C>A

1 paper

NM_003734.4

p.Q319K

c.955C>A