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.M380V

c.1138A>G

Surrounding Variants

1 paper

NM_003734.4

p.R383C

c.1147C>T

2 papers

NM_003734.4

p.Y384C

c.1151A>G

1 paper

NM_003734.4

p.A370T

c.1108G>A

1 paper

NM_003734.4

p.Y394N

c.1180T>A

1 paper

NM_003734.4

p.T396T

c.1188G>A

1 paper

NM_003734.4

p.E362K

c.1084G>A

1 paper

NM_003734.4

p.R358R

c.1074A>G

1 paper

NM_003734.4

p.D403N

c.1207G>A

1 paper

NM_003734.4

p.D403E

c.1209C>A

1 paper

NM_003734.4

p.D403E

c.1209C>G

1 paper

NM_003734.4

p.P405delFs

c.1213delC

1 paper

NM_003734.4

p.R353H

c.1058G>A