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

4 papers

NM_032776.3

p.E2531K

c.7591G>A

Surrounding Variants

1 paper

NM_032776.3

p.K2528K

c.7584G>A

4 papers

NM_032776.3

p.E2535D

c.7605G>T

4 papers

NM_032776.3

p.E2535D

c.7605G>C

1 paper

NM_032776.3

p.V2524A

c.7571T>C

1 paper

NM_032776.3

p.A2519T

c.7555G>A

1 paper

NM_032776.3

p.L2497L

c.7491G>C

1 paper

NM_032776.3

p.E2489Q

c.7465G>C

1 paper

NM_032776.3

p.P2484S

c.7450C>T

1 paper

NM_032776.3

p.Q2469H

c.7407G>T

1 paper

NM_032776.3

p.Q2469H

c.7407G>C

1 paper

NM_032776.3

p.F2453L

c.7359C>A

1 paper

NM_032776.3

p.K2434T

c.7301A>C