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.G931R

c.2791G>C

Surrounding Variants

1 paper

NM_001042603.3

p.G931R

c.2791G>A

1 paper

NM_001042603.3

p.A933T

c.2797G>A

1 paper

NM_001042603.3

p.H935L

c.2804A>T

1 paper

NM_001042603.3

p.A937P

c.2809G>C

1 paper

NM_001042603.3

p.Q916*

c.2746C>T

1 paper

NM_001042603.3

p.P914L

c.2741C>T

1 paper

NM_001042603.3

p.T950R

c.2849C>G

1 paper

NM_001042603.3

p.R954Q

c.2861G>A

1 paper

NM_001042603.3

p.E906K

c.2716G>A

1 paper

NM_001042603.3

p.E957K

c.2869G>A

1 paper

NM_001042603.3

p.L904M

c.2710T>A

1 paper

NM_001042603.3

p.W903*

c.2708G>A