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.C101Y

c.302G>A

Surrounding Variants

1 paper

NM_012308.3

p.K99E

c.295A>G

1 paper

NM_012308.3

p.S81C

c.242C>G

1 paper

NM_012308.3

p.F78S

c.233T>C

2 papers

NM_012308.3

p.P75R

c.224C>G

1 paper

NM_012308.3

p.L72F

c.216G>C

1 paper

NM_012308.3

p.L72F

c.216G>T

1 paper

NM_012308.3

p.G70D

c.209G>A

1 paper

NM_012308.3

p.E65Q

c.193G>C

1 paper

NM_012308.3

p.K60K

c.180A>G

1 paper

NM_012308.3

p.A51V

c.152C>T

1 paper

NM_012308.3

p.T37N

c.110C>A

1 paper

NM_012308.3

p.G34A

c.101G>C