Varaico: Literature-Extracted Genetic Variants

KDM2A

123 papers

RefSeq Summary

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin pr...

Pfam Domains

JHDaa 303–359UCSCJumonji helical domain

zf-CXXCaa 563–609UCSCCXXC zinc finger domain

PHD_4aa 614–676UCSCPHD-finger

Gene Aliases

HGNC Name

lysine demethylase 2A

HGNC Previous Symbol

FBXL11

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012308.3

p.Y141delFs

c.421delT

Surrounding Variants

2 papers

NM_012308.3

p.Y141C

c.422A>G

1 paper

NM_012308.3

p.N155N

c.465T>C

1 paper

NM_012308.3

p.R159_P160insFs

c.477_478insCC

1 paper

NM_012308.3

p.T162M

c.485C>T

1 paper

NM_012308.3

p.D112A

c.335A>C

1 paper

NM_012308.3

p.D112G

c.335A>G

1 paper

NM_012308.3

p.S104G

c.310A>G

1 paper

NM_012308.3

p.V163E

c.488T>A

1 paper

NM_012308.3

p.D164_F165insFs

c.492_493ins4

1 paper

NM_012308.3

p.I188insFs

c.563_564insCC

2 papers

NM_012308.3

p.Q192K

c.574C>A

1 paper

NM_012308.3

p.Q192*

c.574C>T