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

1–12 of 161 variants

4 papers

NM_012308.3

p.D214A

c.641A>C

4 papers

NM_012308.3

p.E865_E866del1

c.2595_2597delGGA

3 papers

NM_012308.3

p.R568Q

c.1703G>A

3 papers

NM_012308.3

p.M591T

c.1772T>C

2 papers

NM_012308.3

p.R20*

c.58C>T

2 papers

NM_012308.3

p.G34R

c.100G>A

2 papers

NM_012308.3

p.G34R

c.100G>C

2 papers

NM_012308.3

p.P75R

c.224C>G

2 papers

NM_012308.3

p.Y141C

c.422A>G

2 papers

NM_012308.3

p.Q192K

c.574C>A

2 papers

NM_012308.3

p.Y193*

c.579C>A

2 papers

NM_012308.3

p.Y193*

c.579C>G