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.D973V

c.2918A>T

Surrounding Variants

1 paper

NM_006618.5

p.W971C

c.2913G>T

1 paper

NM_006618.5

p.W971C

c.2913G>C

1 paper

NM_006618.5

p.A953T

c.2857G>A

1 paper

NM_006618.5

p.S952L

c.2855C>T

1 paper

NM_006618.5

p.G947R

c.2839G>C

1 paper

NM_006618.5

p.G947R

c.2839G>A

1 paper

NM_006618.5

p.R939*

c.2815A>T

1 paper

NM_006618.5

p.L928P

c.2783T>C

1 paper

NM_001314042.2

p.C963R

c.2887T>C

2 papers

NM_006618.5

p.R918C

c.2752C>T

1 paper

NM_006618.5

p.R911C

c.2731C>T

1 paper

NM_006618.5

p.E909K

c.2725G>A