Varaico: Literature-Extracted Genetic Variants

KDM4A

135 papers

RefSeq Summary

This gene is a member of the Jumonji domain 2 (JMJD2) family and encodes a protein containing a JmjN domain, a JmjC domain, a JD2H domain, two TUDOR domains, and two PHD-type zinc fingers. This nuclea...

Pfam Domains

JmjNaa 15–49UCSCjmjN domain

JmjCaa 175–291UCSCJmjC domain, hydroxylase

PHD_2aa 732–767UCSCPHD-finger

zf-HC5HC2H_2aa 773–884UCSCPHD-zinc-finger like domain

Tudor_2aa 902–936UCSCJumonji domain-containing protein 2A Tudor domain

Tudor_2aa 960–994UCSCJumonji domain-containing protein 2A Tudor domain

Gene Aliases

HGNC Name

lysine demethylase 4A

HGNC Previous Symbols

JMJD2; JMJD2A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014663.3

p.A45T

c.133G>A

Surrounding Variants

1 paper

NM_014663.3

p.K46K

c.138G>A

1 paper

NM_014663.3

p.I34T

c.101T>C

1 paper

NM_014663.3

p.I34L

c.100A>C

1 paper

NM_014663.3

p.N26I

c.77A>T

1 paper

NM_014663.3

p.M15T

c.44T>C

1 paper

NM_014663.3

p.N9S

c.26A>G

1 paper

NM_014663.3

p.P49L

c.146C>T

1 paper

NM_014663.3

p.W53G

c.157T>G

1 paper

NM_014663.3

p.S58S

c.174C>T

2 papers

NM_014663.3

p.I71L

c.211A>C

1 paper

NM_014663.3

p.T76A

c.226A>G

2 papers

NM_014663.3

p.S79_G80insFs

c.237_240dup4