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.Y130D

c.388T>G

Surrounding Variants

1 paper

NM_001348716.2

p.S132N

c.395G>A

2 papers

NM_001348716.2

p.R135*

c.403C>T

1 paper

NM_001348716.2

p.D122G

c.365A>G

1 paper

NM_001348716.2

p.G138A

c.413G>C

1 paper

NM_001348716.2

p.S139T

c.416G>C

1 paper

NM_001348716.2

p.R146H

c.437G>A

2 papers

NM_001348716.2

p.R149*

c.445C>T

1 paper

NM_001348716.2

p.G108W

c.322G>T

1 paper

NM_001348716.2

p.R102R

c.306G>C

1 paper

NM_001348716.2

p.R102W

c.304C>T

1 paper

NM_001348716.2

p.A99V

c.296C>T

1 paper

NM_001348716.2

p.G95S

c.283G>A