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.S1317S

c.3951T>C

Surrounding Variants

1 paper

NM_032776.3

p.D1316E

c.3948T>G

1 paper

NM_032776.3

p.S1311S

c.3933T>C

1 paper

NM_032776.3

p.A1324fs

c.3970_3971fs

2 papers

NM_032776.3

p.R1328G

c.3982C>G

2 papers

NM_032776.3

p.R1328R

c.3984T>A

NM_001322254.2

p.R1109R

c.3327T>A

NM_001318153.2

p.R1040R

c.3120T>A

NM_001322252.2

p.R1290R

c.3870T>A

NM_001282948.2

p.R1146R

c.3438T>A

1 paper

NM_032776.3

p.A1324_S1330delFs

c.3971_3989del19

1 paper

NM_032776.3

p.M1302V

c.3904A>G

1 paper

NM_032776.3

p.A1337V

c.4010C>T

1 paper

NM_032776.3

p.G1296R

c.3886G>C

1 paper

NM_032776.3

p.G1296R

c.3886G>A

1 paper

NM_032776.3

p.H1290Q

c.3870T>A

1 paper

NM_032776.3

p.T1351I

c.4052C>T