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.E388*

c.1162G>T

Surrounding Variants

1 paper

NM_001291694.2

p.S389A

c.1165T>G

1 paper

NM_001291694.2

p.S389F

c.1166C>T

1 paper

NM_001291694.2

p.S391A

c.1171T>G

1 paper

NM_001291694.2

p.H384L

c.1151A>T

1 paper

NM_001291694.2

p.R392C

c.1174C>T

1 paper

NM_003298.5

p.R411H

c.1232G>A

NM_001291694.2

p.R392H

c.1175G>A

1 paper

NM_001291694.2

p.V383M

c.1147G>A

2 papers

NM_001291694.2

p.F395I

c.1183T>A

1 paper

NM_001291694.2

p.F395L

c.1183T>C

1 paper

NM_001291694.2

p.F395V

c.1183T>G

1 paper

NM_001291694.2

p.F395L

c.1185C>A

1 paper

NM_001291694.2

p.F395L

c.1185C>G