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.S139G

c.415A>G

Surrounding Variants

1 paper

NM_003734.4

p.N137S

c.410A>G

1 paper

NM_003734.4

p.P149L

c.446C>T

1 paper

NM_003734.4

p.A126T

c.376G>A

2 papers

NM_003734.4

p.R153W

c.457C>T

1 paper

NM_003734.4

p.V157L

c.469G>T

1 paper

NM_003734.4

p.P120R

c.359C>G

1 paper

NM_003734.4

p.R159R

c.477T>C

1 paper

NM_003734.4

p.S117insFs

c.351dupC

1 paper

NM_003734.4

p.S117delFs

c.351delC

1 paper

NM_003734.4

p.S117fs

c.349_350fs

1 paper

NM_003734.4

p.S117G

c.349A>G

1 paper

NM_003734.4

p.R115K

c.344G>A