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.A167D

c.500C>A

Surrounding Variants

1 paper

NM_001348716.2

p.A167V

c.500C>T

1 paper

NM_001348716.2

p.K168fs

c.502_503fs

1 paper

NM_001348716.2

p.S162F

c.485C>T

1 paper

NM_001348716.2

p.L173M

c.517C>A

1 paper

NM_001348716.2

p.H159delFs

c.477delT

1 paper

NM_001348716.2

p.H159Y

c.475C>T

1 paper

NM_001348716.2

p.Q152_A153Splc

c.457-8A>C

1 paper

NM_001348716.2

p.G189A

c.566G>C

2 papers

NM_001348716.2

p.R149*

c.445C>T

1 paper

NM_001348716.2

p.R192W

c.574C>T

2 papers

NM_001348716.2

p.R192delFs

c.575delG

1 paper

NM_001348716.2

p.G193fs

c.577_578fs