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

1–12 of 139 variants

3 papers

NM_001291694.2

p.K34R

c.101A>G

2 papers

NM_001291694.2

p.K63R

c.188A>G

2 papers

NM_001291694.2

p.G126D

c.377G>A

2 papers

NM_001291694.2

p.F395I

c.1183T>A

2 papers

NM_001291694.2

p.F517L

c.1549T>C

2 papers

NM_001291694.2

p.F517L

c.1551C>A

2 papers

NM_001291694.2

p.F517L

c.1551C>G

2 papers

NM_001291694.2

p.L561fs

c.1681_1682fs

2 papers

NM_001291694.2

p.L580fs

c.1738_1739fs

1 paper

NM_001291694.2

p.M1I

c.3G>T

1 paper

NM_001291694.2

p.T2P

c.4A>C

1 paper

NM_001291694.2

p.P4T

c.10C>A