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_032776.3

p.T1394S

c.4181C>G

Surrounding Variants

3 papers

NM_032776.3

p.T1394S

c.4180A>T

1 paper

NM_001318153.2

p.D1109E

c.3327T>A

1 paper

NM_032776.3

p.D1404N

c.4210G>A

1 paper

NM_032776.3

p.S1409Y

c.4226C>A

1 paper

NM_032776.3

p.G1378V

c.4133G>T

1 paper

NM_032776.3

p.N1371fs

c.4111_4112fs

1 paper

NM_032776.3

p.N1371insFs

c.4112dupA

1 paper

NM_032776.3

p.N1371fs

c.4111_4112fs

2 papers

NM_032776.3

p.H1365Y

c.4093C>T

1 paper

NM_032776.3

p.S1429L

c.4286C>T

1 paper

NM_032776.3

p.P1357S

c.4069C>T

1 paper

NM_032776.3

p.L1356S

c.4067T>C