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.P544S

c.1630C>T

Surrounding Variants

1 paper

NM_001348716.2

p.P549_T550del0

c.1645_1650del6

1 paper

NM_001348716.2

p.T548P

c.1642A>C

1 paper

NM_001348716.2

p.V535M

c.1603G>A

1 paper

NM_001348716.2

p.S556_S558del0

c.1668_1673del6

3 papers

NM_001348716.2

p.N555K

c.1665C>A

3 papers

NM_001348716.2

p.N555K

c.1665C>G

1 paper

NM_001348716.2

p.R532H

c.1595G>A

1 paper

NM_001348716.2

p.S558del1

c.1672_1673delAGT

1 paper

NM_001348716.2

p.A530S

c.1588G>T

2 papers

NM_001348716.2

p.P528S

c.1582C>T

1 paper

NM_001348716.2

p.L526*

c.1577T>A

1 paper

NM_001348716.2

p.E523A

c.1568A>C