Varaico: Literature-Extracted Genetic Variants

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

2 papers

NM_001282948.2

p.D2087A

c.6260A>C

Surrounding Variants

2 papers

NM_032776.3

p.M2273V

c.6817A>G

1 paper

NM_032776.3

p.D2263D

c.6789C>T

1 paper

NM_032776.3

p.R2277Splc

c.6830+28A>T

1 paper

NM_032776.3

p.K2247R

c.6740A>G

1 paper

NM_032776.3

p.W2239*

c.6717G>A

1 paper

NM_032776.3

p.W2239*

c.6716G>A

1 paper

NM_032776.3

p.E2294K

c.6880G>A

1 paper

NM_032776.3

p.G2295E

c.6884G>A

1 paper

NM_032776.3

p.K2296K

c.6888A>G

1 paper

NM_032776.3

p.R2309H

c.6926G>A

1 paper

NM_032776.3

p.L2316F

c.6948G>C

2 papers

NM_032776.3

p.T2333A

c.6997A>G