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.V96I

c.286G>A

Surrounding Variants

1 paper

NM_003734.4

p.V96F

c.286G>T

1 paper

NM_003734.4

p.E100K

c.298G>A

1 paper

NM_003734.4

p.R90Q

c.269G>A

1 paper

NM_003734.4

p.A86G

c.257C>G

1 paper

NM_003734.4

p.A86V

c.257C>T

1 paper

NM_003734.4

p.D85H

c.253G>C

1 paper

NM_003734.4

p.P81A

c.241C>G

1 paper

NM_003734.4

p.P81del1

c.241_243delCCA

2 papers

NM_003734.4

p.L79fs

c.235_236fs

1 paper

NM_003734.4

p.L79delFs

c.236delT

1 paper

NM_003734.4

p.R78P

c.233G>C

1 paper

NM_003734.4

p.R115K

c.344G>A