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_001314042.2

p.L523F

c.1569G>C

Surrounding Variants

1 paper

NM_001314042.2

p.L523F

c.1569G>T

1 paper

NM_006618.5

p.L484F

c.1450C>T

1 paper

NM_006618.5

p.D478fs

c.1432_1433fs

1 paper

NM_006618.5

p.D478delFs

c.1432delC

1 paper

NM_006618.5

p.T476A

c.1426A>G

1 paper

NM_006618.5

p.S505N

c.1514G>A

1 paper

NM_006618.5

p.M467Fs

c.1399delinsGCFs

1 paper

NM_006618.5

p.V466insFs

c.1398dupG

1 paper

NM_006618.5

p.Y510C

c.1529A>G

1 paper

NM_006618.5

p.H512Y

c.1534C>T

3 papers

NM_006618.5

p.L511insFs

c.1533dupG

2 papers

NM_006618.5

p.H512fs

c.1534_1535fs