Varaico: Literature-Extracted Genetic Variants

Gene:JMJD1C
Variant:p.R2403R

JMJD1C

199 papers

RefSeq Summary

The protein encoded by this gene interacts with thyroid hormone receptors and contains a jumonji domain. It is a candidate histone demethylase and is thought to be a coactivator for key transcription ...

Pfam Domains

DUF7030aa 8–71UCSCDomain of unknown function (DUF7030)
PWWP_KDM3Baa 81–179UCSCLysine-specific demethylase 3B, PWWP domain
Tudor_KDM3Baa 181–255UCSCLysine-specific demethylase 3B, tudor domain
JmjCaa 2381–2481UCSCJmjC domain, hydroxylase

Gene Aliases

HGNC Name

jumonji domain containing 1C

HGNC Previous Symbol

TRIP8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032776.3
p.R2403R
c.7209G>A
Surrounding Variants
1 paper
NM_032776.3
p.E2404A
c.7211A>C
1 paper
NM_032776.3
p.F2367L
c.7101T>G
1 paper
NM_032776.3
p.F2367L
c.7101T>A
1 paper
NM_032776.3
p.F2367L
c.7099T>C
1 paper
NM_032776.3
p.D2422Y
c.7264G>T
1 paper
NM_032776.3
p.K2434T
c.7301A>C
1 paper
NM_032776.3
p.F2453L
c.7359C>A
1 paper
NM_032776.3
p.V2349F
c.7045G>T
2 papers
NM_032776.3
p.T2333A
c.6997A>G
1 paper
NM_032776.3
p.L2316F
c.6948G>C
1 paper
NM_032776.3
p.R2309H
c.6926G>A
1 paper
NM_032776.3
p.K2296K
c.6888A>G
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