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

4 papers

NM_001042603.3

p.K1199fs

c.3595_3596fs

Surrounding Variants

1 paper

NM_001042603.3

p.K1199_G1200insFs

c.3597_3598insT

3 papers

NM_001042603.3

p.K1199insFs

c.3597dupA

14 papers

NM_001042603.3

p.K1199delFs

c.3597delT

11 papers

NM_001042603.3

p.G1200fs

c.3598_3599fs

6 papers

NM_001042603.3

p.G1200fs

c.3598_3599fs

2 papers

NM_001042603.3

p.Q1197fs

c.3589_3590fs

1 paper

NM_001042603.3

p.Q1197P

c.3590A>C

1 paper

NM_001042603.3

p.Q1197K

c.3589C>A

1 paper

NM_001042603.3

p.S1195N

c.3584G>A

1 paper

NM_001042603.3

p.P1190A

c.3568C>G

1 paper

NM_001042603.3

p.K1209N

c.3627A>T

1 paper

NM_001042603.3

p.K1209N

c.3627A>C