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.K523E

c.1567A>G

Surrounding Variants

1 paper

NM_012308.3

p.F524L

c.1570T>C

2 papers

NM_012308.3

p.F524C

c.1571T>G

1 paper

NM_012308.3

p.F524L

c.1572C>A

1 paper

NM_012308.3

p.F524L

c.1572C>G

1 paper

NM_012308.3

p.T526T

c.1578T>A

1 paper

NM_012308.3

p.P536L

c.1607C>T

1 paper

NM_012308.3

p.I537V

c.1609A>G

1 paper

NM_012308.3

p.T538M

c.1613C>T

1 paper

NM_012308.3

p.K539E

c.1615A>G

1 paper

NM_012308.3

p.R553S

c.1659G>C

1 paper

NM_012308.3

p.R553S

c.1659G>T

2 papers

NM_012308.3

p.P559insFs

c.1676dupC