Varaico: Literature-Extracted Genetic Variants

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

Selected Variant

1 paper

NM_001348716.2

p.G326_H327delFs

c.976_979del4

Surrounding Variants

1 paper

NM_001348716.2

p.P325fs

c.973_974fs

2 papers

NM_001348716.2

p.P325delFs

c.974delC

1 paper

NM_001348716.2

p.R328W

c.982C>T

2 papers

NM_001348716.2

p.T321A

c.961A>G

1 paper

NM_001348716.2

p.P318S

c.952C>T

1 paper

NM_001348716.2

p.P335Fs

c.1003delinsGAFs

1 paper

NM_001348716.2

p.P316L

c.947C>T

1 paper

NM_001348716.2

p.Y313*

c.939T>A

1 paper

NM_001348716.2

p.Y313*

c.939T>G

1 paper

NM_001348716.2

p.R340H

c.1019G>A

1 paper

NM_001348716.2

p.L309P

c.926T>C

2 papers

NM_001348716.2

p.S308L

c.923C>T