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.S288T

c.862T>A

Surrounding Variants

2 papers

NM_014663.3

p.S288A

c.862T>G

2 papers

NM_014663.3

p.T289I

c.866C>T

2 papers

NM_014663.3

p.R294C

c.880C>T

1 paper

NM_014663.3

p.R295W

c.883C>T

1 paper

NM_014663.3

p.Y299Y

c.897C>T

1 paper

NM_014663.3

p.E235_A236ins4

c.703_707ins12

1 paper

NM_014663.3

p.A231D

c.692C>A

1 paper

NM_014663.3

p.F227S

c.680T>C

1 paper

NM_014663.3

p.V340G

c.1019T>G

1 paper

NM_014663.3

p.T347M

c.1040C>T

1 paper

NM_014663.3

p.E358K

c.1072G>A

1 paper

NM_014663.3

p.P361T

c.1081C>A