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.P597fs

c.1789_1790fs

Surrounding Variants

2 papers

NM_012308.3

p.R599P

c.1796G>C

1 paper

NM_012308.3

p.F594F

c.1782T>C

1 paper

NM_012308.3

p.F594_G595ins8

c.1780_1784ins24

1 paper

NM_012308.3

p.F594del1

c.1780_1781delTTT

3 papers

NM_012308.3

p.M591T

c.1772T>C

1 paper

NM_012308.3

p.S603A

c.1807T>G

1 paper

NM_012308.3

p.A576S

c.1726G>T

3 papers

NM_012308.3

p.R568Q

c.1703G>A

2 papers

NM_012308.3

p.I560fs

c.1678_1679fs

2 papers

NM_012308.3

p.P559delFs

c.1677delG

1 paper

NM_012308.3

p.S558F

c.1673C>T

2 papers

NM_012308.3

p.P559insFs

c.1676dupC