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

1–12 of 327 variants

5 papers

NM_032776.3

p.P163L

c.488C>T

4 papers

NM_032776.3

p.R69*

c.205C>T

4 papers

NM_032776.3

p.D568V

c.1703A>T

4 papers

NM_032776.3

p.G1158_V1160del0

c.3473_3478del6

4 papers

NM_032776.3

p.E2531K

c.7591G>A

4 papers

NM_032776.3

p.E2535D

c.7605G>T

4 papers

NM_032776.3

p.E2535D

c.7605G>C

3 papers

NM_032776.3

p.A90T

c.268G>A

3 papers

NM_032776.3

p.Q455R

c.1364A>G

3 papers

NM_032776.3

p.K976_D978del0

c.2927_2932del6

3 papers

NM_032776.3

p.T1394S

c.4180A>T

2 papers

NM_032776.3

p.R35Q

c.104G>A