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.E167V

c.500A>T

Surrounding Variants

1 paper

NM_032776.3

p.V171I

c.511G>A

1 paper

NM_032776.3

p.P163P

c.489G>A

5 papers

NM_032776.3

p.P163L

c.488C>T

1 paper

NM_032776.3

p.P163A

c.487C>G

1 paper

NM_032776.3

p.W172*

c.515G>A

1 paper

NM_032776.3

p.W172*

c.516G>A

1 paper

NM_032776.3

p.V173G

c.518T>G

1 paper

NM_032776.3

p.N156D

c.466A>G

1 paper

NM_032776.3

p.F182insFs

c.544_545ins5

1 paper

NM_032776.3

p.G185C

c.553G>T

1 paper

NM_032776.3

p.P186L

c.557C>T

1 paper

NM_032776.3

p.Q199Q

c.597A>G