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.Q513H

c.1539G>C

Surrounding Variants

1 paper

NM_001291694.2

p.Q513H

c.1539G>T

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

1 paper

NM_001291694.2

p.E519Q

c.1555G>C

1 paper

NM_001291694.2

p.E524*

c.1570G>T

1 paper

NM_001291694.2

p.E524G

c.1571A>G

1 paper

NM_001291694.2

p.D536E

c.1608C>G

1 paper

NM_001291694.2

p.T537I

c.1610C>T

1 paper

NM_001291694.2

p.F501Y

c.1502T>A

1 paper

NM_001291694.2

p.L500I

c.1498C>A

1 paper

NM_001291694.2

p.V499A

c.1496T>C