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

5 papers

NM_001348716.2

p.T752_T754del0

c.2256_2261del6

Surrounding Variants

3 papers

NM_001348716.2

p.T754del1

c.2260_2261delACC

2 papers

NM_001348716.2

p.T752_T754del3

c.2254_2261del9

1 paper

NM_001348716.2

p.T758_T762del0

c.2274_2285del12

5 papers

NM_001348716.2

p.T753_T758del6

c.2257_2273del18

2 papers

NM_001348716.2

p.T753_T761del9

c.2257_2282del27

1 paper

NM_001348716.2

p.T752_T753insC

c.2254_2258ins3

1 paper

NM_001348716.2

p.T752_T753insAC

c.2254_2258ins6

2 papers

NM_001348716.2

p.T752_T753insACC

c.2254_2258ins9

6 papers

NM_001348716.2

p.T752_T753ins6

c.2254_2258ins18

1 paper

NM_001348716.2

p.T752_T753ins9

c.2254_2258ins27

1 paper

NM_001348716.2

p.T752_T753ins11

c.2254_2258ins33

1 paper

NM_001348716.2

p.A750T

c.2248G>A