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_001322252.2

p.Y1040*

c.3120T>A

Surrounding Variants

1 paper

NM_032776.3

p.R1072C

c.3214C>T

1 paper

NM_032776.3

p.V1070I

c.3208G>A

1 paper

NM_032776.3

p.P1089S

c.3265C>T

1 paper

NM_032776.3

p.T1096delFs

c.3287_3288delTG

2 papers

NM_032776.3

p.K1060E

c.3178A>G

1 paper

NM_032776.3

p.S1056fs

c.3166_3167fs

1 paper

NM_032776.3

p.N1103S

c.3308A>G

1 paper

NM_032776.3

p.E1047K

c.3139G>A

1 paper

NM_032776.3

p.P1034A

c.3100C>G

1 paper

NM_032776.3

p.E1028Q

c.3082G>C

1 paper

NM_032776.3

p.E1021E

c.3063A>G

1 paper

NM_032776.3

p.F1139_I1140insT

c.3415_3419ins3