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.D1611N

c.4831G>A

Surrounding Variants

1 paper

NM_032776.3

p.K1612T

c.4835A>C

1 paper

NM_032776.3

p.K1609E

c.4825A>G

1 paper

NM_032776.3

p.I1603T

c.4808T>C

1 paper

NM_032776.3

p.D1599D

c.4797T>C

1 paper

NM_032776.3

p.S1624C

c.4871C>G

1 paper

NM_032776.3

p.S1591Y

c.4772C>A

1 paper

NM_001318153.2

p.I1290I

c.3870T>A

1 paper

NM_032776.3

p.V1575A

c.4724T>C

1 paper

NM_032776.3

p.E1663_E1665delFs

c.4988_4994del7

1 paper

NM_032776.3

p.L1555L

c.4665C>A

1 paper

NM_032776.3

p.A1553D

c.4658C>A

1 paper

NM_001322254.2

p.H1328Q

c.3984T>A