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

5 papers

NM_001042603.3

p.P1474T

c.4420C>A

Surrounding Variants

1 paper

NM_001042603.3

p.P1475T

c.4423C>A

1 paper

NM_001042603.3

p.S1476F

c.4427C>T

1 paper

NM_001042603.3

p.A1471T

c.4411G>A

2 papers

NM_001042603.3

p.R1467W

c.4399C>T

1 paper

NM_001042603.3

p.W1466*

c.4398G>A

1 paper

NM_001042603.3

p.W1466*

c.4397G>A

1 paper

NM_001042603.3

p.H1482Y

c.4444C>T

1 paper

NM_001042603.3

p.I1483V

c.4447A>G

1 paper

NM_001042603.3

p.L1459fs

c.4375_4376fs

1 paper

NM_001042603.3

p.L1459V

c.4375C>G

2 papers

NM_001042603.3

p.E1446Q

c.4336G>C

1 paper

NM_001042603.3

p.L1445V

c.4333C>G