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

1 paper

NM_001282948.2

p.G26insFs

c.76_77insT

Surrounding Variants

1 paper

NM_001282948.2

p.G26insFs

c.77_78insT

1 paper

NM_032776.3

p.W205L

c.614G>T

1 paper

NM_001282948.2

p.W23insFs

c.68_69insA

1 paper

NM_001282948.2

p.Q22R

c.65A>G

1 paper

NM_001282948.2

p.Q22insFs

c.65_66insT

1 paper

NM_001282948.2

p.Q22insFs

c.64_65insT

1 paper

NM_001282948.2

p.Q22insFs

c.64_65insG

1 paper

NM_032776.3

p.A202V

c.605C>T

1 paper

NM_032776.3

p.Q199Q

c.597A>G

1 paper

NM_032776.3

p.M220I

c.660G>T

1 paper

NM_032776.3

p.M220I

c.660G>C

1 paper

NM_032776.3

p.M220I

c.660G>A