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.G79E

c.236G>A

Surrounding Variants

2 papers

NM_001348716.2

p.G79Splc

c.236+1G>A

1 paper

NM_001348716.2

p.A77T

c.229G>A

1 paper

NM_001348716.2

p.Y75*

c.225T>A

1 paper

NM_001348716.2

p.Y75*

c.225T>G

1 paper

NM_001348716.2

p.H70L

c.209A>T

1 paper

NM_001348716.2

p.S63*

c.188C>A

1 paper

NM_001348716.2

p.S63*

c.188C>G

1 paper

NM_001348716.2

p.P62S

c.184C>T

1 paper

NM_001348716.2

p.S50N

c.149G>A

4 papers

NM_001348716.2

p.R46Splc

c.138-2A>G

2 papers

NM_001348716.2

p.R46Splc

c.138-8C>G

1 paper

NM_001348716.2

p.T82I

c.245C>T