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.I689I

c.2067T>A

Surrounding Variants

1 paper

NM_001282948.2

p.T509fs

c.1525_1526fs

1 paper

NM_032776.3

p.H687Y

c.2059C>T

1 paper

NM_032776.3

p.R683K

c.2048G>A

1 paper

NM_032776.3

p.S682*

c.2045C>G

1 paper

NM_032776.3

p.S682*

c.2045C>A

1 paper

NM_032776.3

p.H679H

c.2037T>C

1 paper

NM_032776.3

p.E697_T699delFs

c.2091_2097del7

1 paper

NM_032776.3

p.E678G

c.2033A>G

1 paper

NM_032776.3

p.R672T

c.2015G>C

1 paper

NM_032776.3

p.R672*

c.2014A>T

1 paper

NM_032776.3

p.N708S

c.2123A>G

1 paper

NM_032776.3

p.A667_T668insA

c.1999_2003ins3