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

1 paper

NM_006618.5

p.A75S

c.223G>T

Surrounding Variants

1 paper

NM_006618.5

p.P73_F74insFs

c.219_220insG

1 paper

NM_006618.5

p.D77V

c.230A>T

1 paper

NM_006618.5

p.P72T

c.214C>A

3 papers

NM_006618.5

p.W70R

c.208T>C

3 papers

NM_006618.5

p.W70R

c.208T>A

1 paper

NM_006618.5

p.T84M

c.251C>T

1 paper

NM_006618.5

p.R86insFs

c.256dupC

1 paper

NM_006618.5

p.R86H

c.257G>A

2 papers

NM_006618.5

p.I87F

c.259A>T

2 papers

NM_006618.5

p.E94_A95Splc

c.283-2A>G

2 papers

NM_006618.5

p.R98C

c.292C>T

1 paper

NM_006618.5

p.R98G

c.292C>G