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.R84_P85delFs

c.251_254del4

Surrounding Variants

1 paper

NM_001348716.2

p.R84_P85del1

c.251_253delGAC

2 papers

NM_001348716.2

p.R84delFs

c.250_251delAG

1 paper

NM_001348716.2

p.P83L

c.248C>T

1 paper

NM_001348716.2

p.P83S

c.247C>T

1 paper

NM_001348716.2

p.T82I

c.245C>T

2 papers

NM_001348716.2

p.G88delFs

c.263_264delGG

1 paper

NM_001348716.2

p.G88del1

c.262_264delGGG

1 paper

NM_001348716.2

p.G95S

c.283G>A

1 paper

NM_001348716.2

p.A99V

c.296C>T

1 paper

NM_001348716.2

p.R102W

c.304C>T

1 paper

NM_001348716.2

p.R102R

c.306G>C

1 paper

NM_001348716.2

p.G108W

c.322G>T