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.Q207E

c.619C>G

Surrounding Variants

1 paper

NM_001348716.2

p.V209L

c.625G>C

1 paper

NM_001348716.2

p.V209L

c.625G>T

1 paper

NM_001348716.2

p.P211T

c.631C>A

2 papers

NM_001348716.2

p.P203A

c.607C>G

1 paper

NM_001348716.2

p.A213T

c.637G>A

1 paper

NM_001348716.2

p.R199*

c.595C>T

1 paper

NM_001348716.2

p.S215*

c.644C>A

1 paper

NM_001348716.2

p.S215*

c.644C>G

1 paper

NM_001348716.2

p.P196L

c.587C>T

1 paper

NM_001348716.2

p.G193fs

c.577_578fs

1 paper

NM_001348716.2

p.G193fs

c.577_578fs

1 paper

NM_001348716.2

p.E221D

c.663G>C