Varaico: Literature-Extracted Genetic Variants

NR2C2

280 papers

RefSeq Summary

This gene encodes a protein that belongs to the nuclear hormone receptor family. Members of this family act as ligand-activated transcription factors and function in many biological processes such as ...

Pfam Domains

zf-C4aa 115–184UCSCDouble treble clef zinc finger, C4 type

Hormone_recepaa 371–567UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

nuclear receptor subfamily 2 group C member 2

HGNC Previous Symbol

TR4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001291694.2

p.G565A

c.1694G>C

Surrounding Variants

1 paper

NM_001291694.2

p.L566P

c.1697T>C

2 papers

NM_001291694.2

p.L561fs

c.1681_1682fs

1 paper

NM_001291694.2

p.L561delFs

c.1682delT

1 paper

NM_001291694.2

p.E559G

c.1676A>G

1 paper

NM_001291694.2

p.N556S

c.1667A>G

1 paper

NM_001291694.2

p.S555A

c.1663T>G

1 paper

NM_001291694.2

p.Y578C

c.1733A>G

2 papers

NM_001291694.2

p.L580fs

c.1738_1739fs

1 paper

NM_001291694.2

p.L580delFs

c.1739delT

1 paper

NM_001291694.2

p.R546P

c.1637G>C

1 paper

NM_001291694.2

p.Y587C

c.1760A>G

1 paper

NM_001291694.2

p.G593R

c.1777G>A