Varaico: Literature-Extracted Genetic Variants

KDM4C

135 papers

RefSeq Summary

This gene is a member of the Jumonji domain 2 (JMJD2) family. The encoded protein is a trimethylation-specific demethylase, and converts specific trimethylated histone residues to the dimethylated for...

Pfam Domains

JmjNaa 17–51UCSCjmjN domain

JmjCaa 177–293UCSCJmjC domain, hydroxylase

PHD_2aa 712–747UCSCPHD-finger

zf-HC5HC2H_2aa 753–864UCSCPHD-zinc-finger like domain

Gene Aliases

HGNC Name

lysine demethylase 4C

HGNC Previous Symbol

JMJD2C

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015061.6

p.E495E

c.1485G>A

Surrounding Variants

1 paper

NM_015061.6

p.Y494C

c.1481A>G

2 papers

NM_015061.6

p.E498K

c.1492G>A

1 paper

NM_015061.6

p.S492T

c.1475G>C

1 paper

NM_015061.6

p.S503P

c.1507T>C

1 paper

NM_015061.6

p.E504K

c.1510G>A

1 paper

NM_015061.6

p.S487insFs

c.1459_1460ins23

1 paper

NM_015061.6

p.S481_S482insFs

c.1443_1444insG

1 paper

NM_015061.6

p.D469G

c.1406A>G

1 paper

NM_015061.6

p.K465Q

c.1393A>C

1 paper

NM_015061.6

p.G527R

c.1579G>A

1 paper

NM_015061.6

p.G527R

c.1579G>C

1 paper

NM_015061.6

p.S534R

c.1600A>C