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.K102E

c.304A>G

Surrounding Variants

1 paper

NM_032776.3

p.T98A

c.292A>G

1 paper

NM_032776.3

p.P109fs

c.325_326fs

1 paper

NM_032776.3

p.N93I

c.278A>T

1 paper

NM_032776.3

p.A110_L111delins

c.330_331delinsAA

1 paper

NM_032776.3

p.K91I

c.272A>T

1 paper

NM_032776.3

p.A90S

c.268G>T

3 papers

NM_032776.3

p.A90T

c.268G>A

1 paper

NM_032776.3

p.F81V

c.241T>G

4 papers

NM_032776.3

p.R69*

c.205C>T

1 paper

NM_032776.3

p.K68_R69insA

c.202_206ins3

1 paper

NM_032776.3

p.L64_E65insT

c.190_194ins3