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.T477M

c.1430C>T

Surrounding Variants

1 paper

NM_003734.4

p.Y473N

c.1417T>A

1 paper

NM_003734.4

p.Y473delFs

c.1418_1419delAT

1 paper

NM_003734.4

p.I485L

c.1453A>C

1 paper

NM_003734.4

p.A491_T492insT

c.1471_1475ins3

1 paper

NM_003734.4

p.L460P

c.1379T>C

1 paper

NM_003734.4

p.G454D

c.1361G>A

1 paper

NM_003734.4

p.G502D

c.1505G>A

1 paper

NM_003734.4

p.S449S

c.1347G>A

1 paper

NM_003734.4

p.Y507D

c.1519T>G

1 paper

NM_003734.4

p.G508W

c.1522G>T

1 paper

NM_003734.4

p.G508E

c.1523G>A

1 paper

NM_003734.4

p.T518M

c.1553C>T