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.N372K

c.1116T>A

Surrounding Variants

1 paper

NM_001042603.3

p.N372K

c.1116T>G

1 paper

NM_001042603.3

p.F373fs

c.1117_1118fs

1 paper

NM_001042603.3

p.N372_K374insFs

c.1114_1121dup8

1 paper

NM_001042603.3

p.S375fs

c.1123_1124fs

1 paper

NM_001042603.3

p.A370T

c.1108G>A

4 papers

NM_001042603.3

p.N379S

c.1136A>G

1 paper

NM_001042603.3

p.M380I

c.1140G>T

1 paper

NM_001042603.3

p.M380I

c.1140G>C

1 paper

NM_001042603.3

p.M380I

c.1140G>A

1 paper

NM_001042603.3

p.P381T

c.1141C>A

1 paper

NM_001042603.3

p.P381Q

c.1142C>A

1 paper

NM_001042603.3

p.H383Y

c.1147C>T