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.K648E

c.1942A>G

Surrounding Variants

1 paper

NM_032776.3

p.T650I

c.1949C>T

1 paper

NM_032776.3

p.P640fs

c.1918_1919fs

1 paper

NM_032776.3

p.K637R

c.1910A>G

1 paper

NM_032776.3

p.H634L

c.1901A>T

1 paper

NM_032776.3

p.A667_T668insA

c.1999_2003ins3

1 paper

NM_032776.3

p.R672*

c.2014A>T

1 paper

NM_032776.3

p.R672T

c.2015G>C

1 paper

NM_032776.3

p.P620S

c.1858C>T

1 paper

NM_032776.3

p.E678G

c.2033A>G

1 paper

NM_032776.3

p.H679H

c.2037T>C

1 paper

NM_032776.3

p.R616*

c.1846C>T

1 paper

NM_032776.3

p.S682*

c.2045C>G