Varaico: Literature-Extracted Genetic Variants

Gene:KDM2B
Variant:p.K635del1

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
JHDaa 333–419UCSCJumonji helical domain
zf-CXXCaa 605–651UCSCCXXC zinc finger 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
Selected Variant
3 papers
NM_032590.5
p.K635del1
c.1903_1904delCTT
Surrounding Variants
4 papers
NM_032590.5
p.G638S
c.1912G>A
3 papers
NM_032590.5
p.G638D
c.1913G>A
7 papers
NM_032590.5
p.D632Y
c.1894G>T
3 papers
NM_032590.5
p.C630S
c.1889G>C
3 papers
NM_032590.5
p.C630S
c.1888T>A
1 paper
NM_032590.5
p.H628L
c.1883A>T
3 papers
NM_032590.5
p.C627Y
c.1880G>A
1 paper
NM_032590.5
p.C627R
c.1879T>C
1 paper
NM_032590.5
p.C646G
c.1936T>G
1 paper
NM_032590.5
p.C646S
c.1936T>A
1 paper
NM_032590.5
p.C646Y
c.1937G>A
1 paper
NM_032590.5
p.C624Y
c.1871G>A
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