Varaico: Literature-Extracted Genetic Variants

Gene:KDM2B
Variant:p.L514L

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
1 paper
NM_032590.5
p.L514L
c.1542G>A
Surrounding Variants
1 paper
NM_032590.5
p.L524R
c.1571T>G
1 paper
NM_032590.5
p.V534D
c.1601T>A
1 paper
NM_032590.5
p.A487T
c.1459G>A
1 paper
NM_032590.5
p.A543T
c.1627G>A
1 paper
NM_032590.5
p.P446A
c.1336C>G
1 paper
NM_032590.5
p.P438P
c.1314G>A
1 paper
NM_032590.5
p.E424*
c.1270G>T
1 paper
NM_032590.5
p.C415Y
c.1244G>A
1 paper
NM_032590.5
p.W407*
c.1221G>A
1 paper
NM_032590.5
p.S398C
c.1192A>T
1 paper
NM_032590.5
p.A393S
c.1177G>T
1 paper
NM_032590.5
p.R377C
c.1129C>T
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