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

Selected Variant

1 paper

NM_003297.4

p.R172S

c.516A>C

Surrounding Variants

1 paper

NM_003297.4

p.R172S

c.516A>T

1 paper

NM_003297.4

p.A175G

c.524C>G

1 paper

NM_003297.4

p.R164L

c.491G>T

1 paper

NM_003297.4

p.S182Splc

c.544+1G>C

1 paper

NM_003297.4

p.H161R

c.482A>G

1 paper

NM_003297.4

p.R194Q

c.581G>A

1 paper

NM_003297.4

p.T230T

c.690A>C

1 paper

NM_003297.4

p.D237N

c.709G>A

1 paper

NM_003297.4

p.N100K

c.300T>G

1 paper

NM_003297.4

p.S90F

c.269C>T

1 paper

NM_003297.4

p.V79fs

c.235_236fs

3 papers

NM_003297.4

p.K68E

c.202A>G