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

16 papers

NM_001348716.2

p.P262_P264ins1

c.786_791dup6

Surrounding Variants

1 paper

NM_001348716.2

p.L251*

c.752T>A

4 papers

NM_001348716.2

p.L251S

c.752T>C

1 paper

NM_001348716.2

p.L251*

c.752T>G

1 paper

NM_001348716.2

p.L251insFs

c.752_753insAC

5 papers

NM_001348716.2

p.P263_P264ins0

c.789_791dupACC

2 papers

NM_001348716.2

p.P254ins3

c.761_762ins9

1 paper

NM_001348716.2

p.L251insFs

c.752_753insC

1 paper

NM_001348716.2

p.L251insFs

c.752_753ins11

6 papers

NM_001348716.2

p.P263_P264del1

c.789_791delACC

5 papers

NM_001348716.2

p.L251_P253del0

c.753_758del6

2 papers

NM_001348716.2

p.L251_P254del0

c.753_761del9

1 paper

NM_001348716.2

p.L251_P252ins1

c.753_754insACC