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

4 papers

NM_032776.3

p.D568V

c.1703A>T

Surrounding Variants

1 paper

NM_032776.3

p.S561P

c.1681T>C

1 paper

NM_032776.3

p.D560fs

c.1678_1679fs

1 paper

NM_032776.3

p.S547Y

c.1640C>A

1 paper

NM_032776.3

p.S544_K545ins5

c.1630_1634ins15

1 paper

NM_032776.3

p.Y599H

c.1795T>C

1 paper

NM_032776.3

p.R616*

c.1846C>T

1 paper

NM_032776.3

p.P620S

c.1858C>T

2 papers

NM_032776.3

p.T516S

c.1547C>G

2 papers

NM_032776.3

p.T516S

c.1546A>T

1 paper

NM_032776.3

p.P506A

c.1516C>G

1 paper

NM_032776.3

p.H634L

c.1901A>T

1 paper

NM_032776.3

p.K637R

c.1910A>G