Varaico: Literature-Extracted Genetic Variants

NR3C2

504 papers

RefSeq Summary

This gene encodes the mineralocorticoid receptor, which mediates aldosterone actions on salt and water balance within restricted target cells. The protein functions as a ligand-dependent transcription...

Pfam Domains

zf-C4aa 601–670UCSCDouble treble clef zinc finger, C4 type

Hormone_recepaa 757–946UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

nuclear receptor subfamily 3 group C member 2

HGNC Previous Symbol

MLR

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000901.5

p.S597T

c.1789T>A

Surrounding Variants

1 paper

NM_000901.5

p.S597A

c.1789T>G

1 paper

NM_000901.5

p.S597*

c.1790C>G

1 paper

NM_000901.5

p.S597*

c.1790C>A

1 paper

NM_000901.5

p.S597S

c.1791A>G

1 paper

NM_000901.5

p.C603R

c.1807T>C

3 papers

NM_000901.5

p.C603S

c.1807T>A

1 paper

NM_000901.5

p.C603F

c.1808G>T

3 papers

NM_000901.5

p.C603S

c.1808G>C

1 paper

NM_000901.5

p.L604M

c.1810T>A

1 paper

NM_000901.5

p.L604fs

c.1810_1811fs

10 papers

NM_000901.5

p.R590*

c.1768C>T

4 papers

NM_000901.5

p.L604fs

c.1810_1811fs