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.V163E

c.488T>A

Surrounding Variants

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

2 papers

NM_012308.3

p.Y193*

c.579C>A

2 papers

NM_012308.3

p.Y193*

c.579C>G

1 paper

NM_012308.3

p.K198delFs

c.594delG

1 paper

NM_012308.3

p.K198_Y199insFs

c.594_595ins8

1 paper

NM_012308.3

p.Y199F

c.596A>T

1 paper

NM_012308.3

p.F211Y

c.632T>A

4 papers

NM_012308.3

p.D214A

c.641A>C

1 paper

NM_012308.3

p.Y222N

c.664T>A