Varaico: Literature-Extracted Genetic Variants

KDM5B

245 papers

RefSeq Summary

This gene encodes a lysine-specific histone demethylase that belongs to the jumonji/ARID domain-containing family of histone demethylases. The encoded protein is capable of demethylating tri-, di- and...

Pfam Domains

JmjNaa 33–66UCSCjmjN domain

ARIDaa 99–183UCSCARID/BRIGHT DNA binding domain

PHDaa 307–351UCSCPHD-finger

JmjCaa 481–597UCSCJmjC domain, hydroxylase

KDM5_C-helaa 601–655UCSCLysine-specific demethylase 5, C-terminal helical domain

zf-C5HC2aa 687–739UCSCC5HC2 zinc finger

Gene Aliases

HGNC Name

lysine demethylase 5B

HGNC Previous Symbol

JARID1B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

6 papers

NM_006618.5

p.R1543*

c.4627C>T

Surrounding Variants

1 paper

NM_006618.5

p.A1540T

c.4618G>A

1 paper

NM_006618.5

p.V1518G

c.4553T>G

1 paper

NM_006618.5

p.N1510K

c.4530T>G

1 paper

NM_006618.5

p.N1510K

c.4530T>A

1 paper

NM_001314042.2

p.G1543S

c.4627G>A

1 paper

NM_006618.5

p.Q1504K

c.4510C>A

1 paper

NM_006618.5

p.G1497E

c.4490G>A

1 paper

NM_006618.5

p.S1491N

c.4472G>A

1 paper

NM_006618.5

p.E1481fs

c.4441_4442fs

2 papers

NM_006618.5

p.S1480insFs

c.4440dupT

2 papers

NM_006618.5

p.R1461C

c.4381C>T

1 paper

NM_006618.5

p.E1458*

c.4372G>T