Varaico: Literature-Extracted Genetic Variants

Gene:KDM4C

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
JmjNaa 17–51UCSCjmjN domain
JmjCaa 177–293UCSCJmjC domain, hydroxylase
PHD_2aa 712–747UCSCPHD-finger
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
1–12 of 132 variants
6 papers
NM_015061.6
p.D396N
c.1186G>A
5 papers
NM_015061.6
p.Q767E
c.2299C>G
3 papers
NM_015061.6
p.V1039I
c.3115G>A
2 papers
NM_015061.6
p.L33R
c.98T>G
2 papers
NM_015061.6
p.E192A
c.575A>C
2 papers
NM_015061.6
p.F373L
c.1117T>C
2 papers
NM_015061.6
p.F373L
c.1119C>A
2 papers
NM_015061.6
p.F373L
c.1119C>G
2 papers
NM_015061.6
p.E498K
c.1492G>A
2 papers
NM_015061.6
p.T567I
c.1700C>T
2 papers
NM_015061.6
p.N697S
c.2090A>G
2 papers
NM_015061.6
p.R816Q
c.2447G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."