Varaico: Literature-Extracted Genetic Variants

Gene:KDM2B
Variant:p.A315V

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.A315V
c.944C>T
Surrounding Variants
3 papers
NM_032590.5
p.V316I
c.946G>A
2 papers
NM_032590.5
p.R349P
c.1046G>C
1 paper
NM_032590.5
p.Y370Y
c.1110C>T
1 paper
NM_032590.5
p.R377C
c.1129C>T
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