Varaico: Literature-Extracted Genetic Variants

Gene:KDM6B

KDM6B

279 papers

RefSeq Summary

The protein encoded by this gene is a lysine-specific demethylase that specifically demethylates di- or tri-methylated lysine 27 of histone H3 (H3K27me2 or H3K27me3). H3K27 trimethylation is a repress...

Pfam Domains

JmjCaa 1377–1485UCSCJmjC domain, hydroxylase
KDM6_C-helaa 1492–1547UCSCLysine-specific demethylase 6/UTY, C-terminal helical domain
KDM6_GATALaa 1564–1624UCSCKDM6, GATA-like

Gene Aliases

HGNC Name

lysine demethylase 6B

HGNC Previous Symbol

JMJD3

Papers
RefSeq ID
Protein change
DNA change
1–12 of 442 variants
16 papers
NM_001348716.2
p.P262_P264ins1
c.786_791dup6
6 papers
NM_001348716.2
p.P263_P264del1
c.789_791delACC
6 papers
NM_001348716.2
p.T752_T753ins6
c.2254_2258ins18
5 papers
NM_001348716.2
p.P263_P264ins0
c.789_791dupACC
5 papers
NM_001348716.2
p.L251_P253del0
c.753_758del6
5 papers
NM_001348716.2
p.T752_T754del0
c.2256_2261del6
5 papers
NM_001348716.2
p.T753_T758del6
c.2257_2273del18
4 papers
NM_001348716.2
p.R46Splc
c.138-2A>G
4 papers
NM_001348716.2
p.L251S
c.752T>C
4 papers
NM_001348716.2
p.I500L
c.1498A>C
4 papers
NM_001348716.2
p.P642L
c.1925C>T
4 papers
NM_001348716.2
p.R880G
c.2638C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."