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.Y904H

c.2710T>C

Surrounding Variants

2 papers

NM_012308.3

p.D889delFs

c.2667delC

2 papers

NM_012308.3

p.D889fs

c.2665_2666fs

1 paper

NM_012308.3

p.Q886*

c.2656C>T

1 paper

NM_012308.3

p.G873W

c.2617G>T

1 paper

NM_012308.3

p.E871Q

c.2611G>C

2 papers

NM_012308.3

p.E866del1

c.2596_2597delGAA

1 paper

NM_012308.3

p.E864D

c.2592G>C

1 paper

NM_012308.3

p.E864D

c.2592G>T

4 papers

NM_012308.3

p.E865_E866del1

c.2595_2597delGGA

1 paper

NM_012308.3

p.R834H

c.2501G>A

1 paper

NM_012308.3

p.P833L

c.2498C>T

1 paper

NM_012308.3

p.A824T

c.2470G>A