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.P833L

c.2498C>T

Surrounding Variants

1 paper

NM_012308.3

p.R834H

c.2501G>A

1 paper

NM_012308.3

p.A824T

c.2470G>A

2 papers

NM_012308.3

p.H811N

c.2431C>A

4 papers

NM_012308.3

p.E865_E866del1

c.2595_2597delGGA

2 papers

NM_012308.3

p.T802fs

c.2404_2405fs

1 paper

NM_012308.3

p.E864D

c.2592G>C

1 paper

NM_012308.3

p.E864D

c.2592G>T

2 papers

NM_012308.3

p.T802insFs

c.2404dupA

2 papers

NM_012308.3

p.V801A

c.2402T>C

2 papers

NM_012308.3

p.E866del1

c.2596_2597delGAA

1 paper

NM_012308.3

p.S797L

c.2390C>T

1 paper

NM_012308.3

p.E871Q

c.2611G>C