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.S378C

c.1132A>T

Surrounding Variants

1 paper

NM_032776.3

p.S379T

c.1136G>C

1 paper

NM_032776.3

p.D380A

c.1139A>C

1 paper

NM_032776.3

p.D380insFs

c.1139_1140insT

1 paper

NM_032776.3

p.S381L

c.1142C>T

1 paper

NM_032776.3

p.S381fs

c.1141_1142fs

1 paper

NM_032776.3

p.D374H

c.1120G>C

2 papers

NM_032776.3

p.R368Q

c.1103G>A

1 paper

NM_032776.3

p.L367P

c.1100T>C

1 paper

NM_032776.3

p.L367F

c.1099C>T

1 paper

NM_032776.3

p.K361fs

c.1081_1082fs

1 paper

NM_032776.3

p.R352R

c.1056A>G

1 paper

NM_032776.3

p.N403K

c.1209T>G