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.R880G

c.2638C>G

Surrounding Variants

1 paper

NM_001348716.2

p.R882C

c.2644C>T

1 paper

NM_001348716.2

p.R882H

c.2645G>A

3 papers

NM_001348716.2

p.A884V

c.2651C>T

1 paper

NM_001348716.2

p.A884A

c.2652G>A

1 paper

NM_001348716.2

p.G875S

c.2623G>A

1 paper

NM_001348716.2

p.S874L

c.2621C>T

1 paper

NM_001348716.2

p.E886G

c.2657A>G

2 papers

NM_001348716.2

p.P888S

c.2662C>T

1 paper

NM_001348716.2

p.P890L

c.2669C>T

1 paper

NM_001348716.2

p.P895delFs

c.2684delC

1 paper

NM_001348716.2

p.P895H

c.2684C>A

1 paper

NM_001348716.2

p.T896delFs

c.2686delA