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.P420_H424delFs

c.1260_1270del11

Surrounding Variants

1 paper

NM_001348716.2

p.G421S

c.1261G>A

1 paper

NM_001348716.2

p.A422T

c.1264G>A

1 paper

NM_001348716.2

p.H434H

c.1302C>T

1 paper

NM_001348716.2

p.H435P

c.1304A>C

1 paper

NM_001348716.2

p.S441L

c.1322C>T

1 paper

NM_001348716.2

p.R446Q

c.1337G>A

1 paper

NM_001348716.2

p.P448L

c.1343C>T

1 paper

NM_001348716.2

p.P417S

c.1249C>T

2 papers

NM_001348716.2

p.P415Q

c.1244C>A

1 paper

NM_001348716.2

p.H458P

c.1373A>C

1 paper

NM_001348716.2

p.P470P

c.1410A>C

1 paper

NM_001348716.2

p.S399S

c.1197C>T