Varaico: Literature-Extracted Genetic Variants

NR2C1

83 papers

RefSeq Summary

This gene encodes a nuclear hormone receptor characterized by a highly conserved DNA binding domain (DBD), a variable hinge region, and a carboxy-terminal ligand binding domain (LBD) that is typical f...

Pfam Domains

zf-C4aa 111–180UCSCDouble treble clef zinc finger, C4 type

Hormone_recepaa 378–574UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

nuclear receptor subfamily 2 group C member 1

HGNC Previous Symbol

TR2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 42 variants

3 papers

NM_003297.4

p.K68E

c.202A>G

2 papers

NM_003297.4

p.E6V

c.17A>T

2 papers

NM_003297.4

p.T379insFs

c.1135_1136insA

1 paper

NM_003297.4

p.H9Y

c.25C>T

1 paper

NM_003297.4

p.E18_I19Splc

c.54+16G>A

1 paper

NM_003297.4

p.Q27insFs

c.80_81insT

1 paper

NM_003297.4

p.D36Y

c.106G>T

1 paper

NM_003297.4

p.H37Y

c.109C>T

1 paper

NM_003297.4

p.F44L

c.130T>C

1 paper

NM_003297.4

p.F44L

c.132C>G

1 paper

NM_003297.4

p.F44L

c.132C>A

1 paper

NM_003297.4

p.H49Y

c.145C>T