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

2 papers

NM_014663.3

p.M427T

c.1280T>C

Surrounding Variants

1 paper

NM_014663.3

p.S388R

c.1164C>G

1 paper

NM_014663.3

p.S388R

c.1164C>A

1 paper

NM_014663.3

p.S388R

c.1164C>G

1 paper

NM_014663.3

p.S388Splc

c.1163+1G>A

1 paper

NM_014663.3

p.S388R

c.1162A>C

1 paper

NM_014663.3

p.G376A

c.1127G>C

2 papers

NM_014663.3

p.M374V

c.1120A>G

1 paper

NM_014663.3

p.M374fs

c.1120_1121fs

1 paper

NM_014663.3

p.D373N

c.1117G>A

1 paper

NM_014663.3

p.D373_M374insFs

c.1119_1120ins43

1 paper

NM_014663.3

p.E366K

c.1096G>A

1 paper

NM_014663.3

p.P361T

c.1081C>A