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.S1185R

c.3555T>G

Surrounding Variants

2 papers

NM_032776.3

p.T1187A

c.3559A>G

1 paper

NM_032776.3

p.S1193F

c.3578C>T

1 paper

NM_032776.3

p.H1204R

c.3611A>G

1 paper

NM_032776.3

p.P1164delFs

c.3491delG

1 paper

NM_032776.3

p.P1164fs

c.3490_3491fs

1 paper

NM_032776.3

p.I1163V

c.3487A>G

4 papers

NM_032776.3

p.G1158_V1160del0

c.3473_3478del6

2 papers

NM_032776.3

p.H1214R

c.3641A>G

1 paper

NM_032776.3

p.E1221K

c.3661G>A

2 papers

NM_032776.3

p.P1146P

c.3438T>A

1 paper

NM_032776.3

p.L1143F

c.3427C>T

1 paper

NM_032776.3

p.P1229S

c.3685C>T