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

3 papers

NM_032776.3

p.Q455R

c.1364A>G

Surrounding Variants

1 paper

NM_032776.3

p.T454S

c.1361C>G

1 paper

NM_032776.3

p.T454S

c.1360A>T

1 paper

NM_032776.3

p.M460T

c.1379T>C

1 paper

NM_032776.3

p.R449Q

c.1346G>A

1 paper

NM_032776.3

p.S464T

c.1390T>A

1 paper

NM_032776.3

p.E445D

c.1335A>T

1 paper

NM_032776.3

p.E445D

c.1335A>C

1 paper

NM_032776.3

p.H443_E444del1

c.1329_1331delTCA

2 papers

NM_032776.3

p.Q467E

c.1399C>G

2 papers

NM_032776.3

p.S468F

c.1403C>T

1 paper

NM_032776.3

p.K441T

c.1322A>C

1 paper

NM_032776.3

p.N476I

c.1427A>T