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.Q365_E366del2

c.1093_1097del6

Surrounding Variants

1 paper

NM_006618.5

p.F368S

c.1103T>C

2 papers

NM_001314042.2

p.Q408*

c.1222C>T

NM_006618.5

p.Q372*

c.1114C>T

1 paper

NM_001314042.2

p.Q408_R411del4

c.1222_1232del12

1 paper

NM_006618.5

p.T378T

c.1134C>T

1 paper

NM_006618.5

p.R380G

c.1138C>G

3 papers

NM_006618.5

p.A388P

c.1162G>C

1 paper

NM_006618.5

p.A388A

c.1164G>A

1 paper

NM_006618.5

p.F394insFs

c.1180_1181insC

1 paper

NM_006618.5

p.N395fs

c.1183_1184fs

3 papers

NM_006618.5

p.F394insFs

c.1182dupC

2 papers

NM_006618.5

p.N395fs

c.1183_1184fs

1 paper

NM_006618.5

p.C353F

c.1058G>T