Varaico: Literature-Extracted Genetic Variants

KDM2B

145 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

Cupin_8aa 119–337UCSCCupin-like domain

JHDaa 333–419UCSCJumonji helical domain

zf-CXXCaa 605–651UCSCCXXC zinc finger domain

PHD_4aa 656–723UCSCPHD-finger

Gene Aliases

HGNC Name

lysine demethylase 2B

HGNC Previous Symbol

FBXL10

Papers

RefSeq ID

Protein change

DNA change

1–12 of 248 variants

7 papers

NM_032590.5

p.D632Y

c.1894G>T

4 papers

NM_032590.5

p.T28fs

c.82_83fs

4 papers

NM_032590.5

p.C616R

c.1846T>C

4 papers

NM_032590.5

p.C616Y

c.1847G>A

4 papers

NM_032590.5

p.G638S

c.1912G>A

3 papers

NM_032590.5

p.H19R

c.56A>G

3 papers

NM_032590.5

p.V316I

c.946G>A

3 papers

NM_032590.5

p.R609C

c.1825C>T

3 papers

NM_032590.5

p.C627Y

c.1880G>A

3 papers

NM_032590.5

p.C630S

c.1888T>A

3 papers

NM_032590.5

p.C630S

c.1889G>C

3 papers

NM_032590.5

p.K635del1

c.1903_1904delCTT