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

4 papers

NM_001348716.2

p.I500L

c.1498A>C

Surrounding Variants

2 papers

NM_001348716.2

p.R495Q

c.1484G>A

1 paper

NM_001348716.2

p.A493G

c.1478C>G

1 paper

NM_001348716.2

p.C491fs

c.1471_1472fs

1 paper

NM_001348716.2

p.C491_E496Fs

c.1471_1487delinsGGGCTGFs

1 paper

NM_001348716.2

p.G510R

c.1528G>A

1 paper

NM_001348716.2

p.G510R

c.1528G>C

1 paper

NM_001348716.2

p.P511H

c.1532C>A

1 paper

NM_001348716.2

p.R513C

c.1537C>T

1 paper

NM_001348716.2

p.R513fs

c.1537_1538fs

2 papers

NM_001348716.2

p.R513P

c.1538G>C

1 paper

NM_001348716.2

p.P514fs

c.1540_1541fs

1 paper

NM_001348716.2

p.P514_A515delFs

c.1542_1543delTG