Varaico: Literature-Extracted Genetic Variants

Gene:KDM4C
Variant:p.D396N

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
Selected Variant
6 papers
NM_015061.6
p.D396N
c.1186G>A
Surrounding Variants
1 paper
NM_015061.6
p.V395V
c.1185C>G
1 paper
NM_015061.6
p.D386N
c.1156G>A
1 paper
NM_015061.6
p.V412V
c.1236C>T
1 paper
NM_015061.6
p.S378F
c.1133C>T
1 paper
NM_015061.6
p.A418T
c.1252G>A
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.F373L
c.1117T>C
1 paper
NM_015061.6
p.C455Y
c.1364G>A
1 paper
NM_015061.6
p.K465Q
c.1393A>C
1 paper
NM_015061.6
p.D469G
c.1406A>G
1 paper
NM_015061.6
p.S481_S482insFs
c.1443_1444insG
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