Varaico: Literature-Extracted Genetic Variants

Gene:KDM4E
Variant:p.A69P

KDM4E

59 papers

RefSeq Summary

The protein encoded by this intronless gene is a member of a large family of histone lysine demethylases, which use oxygen and 2-oxoglutarate to demethylate di- and trimethylated lys9 of histone H3. D...

Pfam Domains

JmjNaa 16–50UCSCjmjN domain
JmjCaa 176–292UCSCJmjC domain, hydroxylase

Gene Aliases

HGNC Name

lysine demethylase 4E

HGNC Previous Symbol

KDM4DL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001161630.1
p.A69P
c.205G>C
Surrounding Variants
2 papers
NM_001161630.1
p.I63I
c.189C>T
1 paper
NM_001161630.1
p.K55fs
c.163_164fs
1 paper
NM_001161630.1
p.K55_Q58delFs
c.163_172del10
1 paper
NM_001161630.1
p.Q85*
c.253C>T
1 paper
NM_001161630.1
p.H87fs
c.259_260fs
1 paper
NM_001161630.1
p.H87delFs
c.261delT
1 paper
NM_001161630.1
p.R94fs
c.280_281fs
1 paper
NM_001161630.1
p.R94delFs
c.281delG
2 papers
NM_001161630.1
p.Q97*
c.289C>T
1 paper
NM_001161630.1
p.A40T
c.118G>A
1 paper
NM_001161630.1
p.G39D
c.116G>A
6 papers
NM_001161630.1
p.R100H
c.299G>A
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