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

4 papers

NM_001348716.2

p.P642L

c.1925C>T

Surrounding Variants

2 papers

NM_001348716.2

p.E639K

c.1915G>A

1 paper

NM_001348716.2

p.P638L

c.1913C>T

1 paper

NM_001348716.2

p.P648R

c.1943C>G

1 paper

NM_001348716.2

p.R631T

c.1892G>C

1 paper

NM_001348716.2

p.P655L

c.1964C>T

1 paper

NM_001348716.2

p.V660G

c.1979T>G

2 papers

NM_001348716.2

p.P664L

c.1991C>T

1 paper

NM_001348716.2

p.P668delFs

c.2003_2004delCT

1 paper

NM_001348716.2

p.Q616R

c.1847A>G

1 paper

NM_001348716.2

p.R669fs

c.2005_2006fs

1 paper

NM_001348716.2

p.R669_L670insFs

c.2007_2008insGG

1 paper

NM_001348716.2

p.L670fs

c.2008_2009fs