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

1–12 of 702 variants

14 papers

NM_001042603.3

p.K1199delFs

c.3597delT

11 papers

NM_001042603.3

p.M865T

c.2594T>C

11 papers

NM_001042603.3

p.G1200fs

c.3598_3599fs

7 papers

NM_001042603.3

p.R1508W

c.4522C>T

6 papers

NM_001042603.3

p.R782Q

c.2345G>A

6 papers

NM_001042603.3

p.G1200fs

c.3598_3599fs

5 papers

NM_001042603.3

p.E1100K

c.3298G>A

5 papers

NM_001042603.3

p.G1116E

c.3347G>A

5 papers

NM_001042603.3

p.P1474T

c.4420C>A

4 papers

NM_001042603.3

p.V4G

c.11T>G

4 papers

NM_001042603.3

p.N379S

c.1136A>G

4 papers

NM_001042603.3

p.R568H

c.1703G>A