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.L902_L904delFs

c.2705_2712del8

Surrounding Variants

1 paper

NM_001348716.2

p.L902delFs

c.2705delT

1 paper

NM_001348716.2

p.L902fs

c.2704_2705fs

1 paper

NM_001348716.2

p.P900delFs

c.2700delA

2 papers

NM_001348716.2

p.P906A

c.2716C>G

1 paper

NM_001348716.2

p.Q897P

c.2690A>C

1 paper

NM_001348716.2

p.Q897delFs

c.2690_2691delAA

1 paper

NM_001348716.2

p.Q897fs

c.2689_2690fs

1 paper

NM_001348716.2

p.T896fs

c.2686_2687fs

2 papers

NM_001348716.2

p.R908C

c.2722C>T

1 paper

NM_001348716.2

p.T896delFs

c.2686delA

1 paper

NM_001348716.2

p.P895H

c.2684C>A

1 paper

NM_001348716.2

p.S909Y

c.2726C>A