Varaico: Literature-Extracted Genetic Variants

KDM5A

442 papers

RefSeq Summary

This gene encodes a member of the Jumonji, AT-rich interactive domain 1 (JARID1) histone demethylase protein family. The encoded protein plays a role in gene regulation through the histone code by spe...

Pfam Domains

JmjNaa 20–53UCSCjmjN domain

ARIDaa 86–170UCSCARID/BRIGHT DNA binding domain

PHDaa 296–340UCSCPHD-finger

JmjCaa 470–586UCSCJmjC domain, hydroxylase

KDM5_C-helaa 590–644UCSCLysine-specific demethylase 5, C-terminal helical domain

zf-C5HC2aa 676–728UCSCC5HC2 zinc finger

Gene Aliases

HGNC Name

lysine demethylase 5A

HGNC Previous Symbols

RBBP2; JARID1A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001042603.3

p.M1L

c.1A>T

Surrounding Variants

1 paper

NM_001042603.3

p.M1L

c.1A>C

1 paper

NM_001042603.3

p.M1K

c.2T>A

1 paper

NM_001042603.3

p.M1_A2insFs

c.3_4insA

1 paper

NM_001042603.3

p.A2S

c.4G>T

1 paper

NM_001042603.3

p.A2ins3

c.4_5ins9

1 paper

NM_001042603.3

p.A2V

c.5C>T

1 paper

NM_001042603.3

p.A2insFs

c.5dupC

4 papers

NM_001042603.3

p.V4G

c.11T>G

2 papers

NM_001042603.3

p.V4V

c.12G>C

1 paper

NM_001042603.3

p.V4V

c.12G>A

1 paper

NM_001042603.3

p.G5R

c.13G>C

1 paper

NM_001042603.3

p.G5E

c.14G>A