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.G395S

c.1183G>A

Surrounding Variants

1 paper

NM_001348716.2

p.G395A

c.1184G>C

1 paper

NM_001348716.2

p.P394A

c.1180C>G

1 paper

NM_001348716.2

p.T398T

c.1194C>G

3 papers

NM_001348716.2

p.S399T

c.1196G>C

1 paper

NM_001348716.2

p.S399S

c.1197C>T

1 paper

NM_001348716.2

p.V383M

c.1147G>A

1 paper

NM_001348716.2

p.C382*

c.1146C>A

1 paper

NM_001348716.2

p.T380P

c.1138A>C

1 paper

NM_001348716.2

p.T379S

c.1136C>G

1 paper

NM_001348716.2

p.T379S

c.1135A>T

2 papers

NM_001348716.2

p.P415Q

c.1244C>A

1 paper

NM_001348716.2

p.P417S

c.1249C>T