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

1–12 of 134 variants

10 papers

NM_014663.3

p.A482E

c.1445C>A

3 papers

NM_014663.3

p.K1015N

c.3045A>C

3 papers

NM_014663.3

p.K1015N

c.3045A>T

2 papers

NM_014663.3

p.I71L

c.211A>C

2 papers

NM_014663.3

p.S79_G80insFs

c.237_240dup4

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

2 papers

NM_014663.3

p.M374V

c.1120A>G

2 papers

NM_014663.3

p.M427T

c.1280T>C

1 paper

NM_014663.3

p.N9S

c.26A>G

1 paper

NM_014663.3

p.M15T

c.44T>C