Varaico: Literature-Extracted Genetic Variants

AOC2

68 papers

RefSeq Summary

Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes and ammonia in the presence of copper and quinone cofactor. This gene shows high sequence similarity to copper amine oxid...

Pfam Domains

Cu_amine_oxidN2aa 62–148UCSCCopper amine oxidase, N2 domain

Cu_amine_oxidN3aa 165–263UCSCCopper amine oxidase, N3 domain

Cu_amine_oxidaa 318–722UCSCCopper amine oxidase, enzyme domain

Gene Aliases

HGNC Name

amine oxidase copper containing 2

HGNC Alias Symbols

RAO; DAO2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_009590.4

p.G431G

c.1293A>G

Surrounding Variants

1 paper

NM_009590.4

p.Q442E

c.1324C>G

1 paper

NM_009590.4

p.G481_V483delFs

c.1443_1447del5

1 paper

NM_009590.4

p.S381N

c.1142G>A

1 paper

NM_009590.4

p.T373T

c.1119G>A

1 paper

NM_009590.4

p.T373M

c.1118C>T

1 paper

NM_009590.4

p.R352L

c.1055G>T

1 paper

NM_009590.4

p.T514M

c.1541C>T

1 paper

NM_009590.4

p.R342K

c.1025G>A

1 paper

NM_009590.4

p.F522L

c.1564T>C

1 paper

NM_009590.4

p.F522L

c.1566C>A

1 paper

NM_009590.4

p.F522L

c.1566C>G

1 paper

NM_009590.4

p.L526L

c.1578G>A