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.A751G

c.2252C>G

Surrounding Variants

1 paper

NM_012308.3

p.D747N

c.2239G>A

1 paper

NM_012308.3

p.K758E

c.2272A>G

1 paper

NM_012308.3

p.A743A

c.2229T>G

1 paper

NM_012308.3

p.R760Q

c.2279G>A

1 paper

NM_012308.3

p.R733fs

c.2197_2198fs

1 paper

NM_012308.3

p.R733G

c.2197C>G

1 paper

NM_012308.3

p.R733delFs

c.2197delC

1 paper

NM_012308.3

p.V730I

c.2188G>A

1 paper

NM_012308.3

p.P729L

c.2186C>T

1 paper

NM_012308.3

p.P729fs

c.2185_2186fs

2 papers

NM_012308.3

p.E775K

c.2323G>A

4 papers

NM_001256405.2

p.K337R

c.1010A>G

NM_012308.3

p.K776R

c.2327A>G