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_032776.3

p.A56_V57Splc

c.168+10T>C

Surrounding Variants

2 papers

NM_032776.3

p.R35Q

c.104G>A

1 paper

NM_032776.3

p.R27C

c.79C>T

1 paper

NM_032776.3

p.A23V

c.68C>T

1 paper

NM_032776.3

p.A23insFs

c.68_69insA

1 paper

NM_032776.3

p.E22insFs

c.64_65insT

1 paper

NM_032776.3

p.E4D

c.12G>C

1 paper

NM_032776.3

p.M1insFs

c.3dupG