Varaico: Literature-Extracted Genetic Variants

NR3C1

1,293 papers

RefSeq Summary

This gene encodes glucocorticoid receptor, which can function both as a transcription factor that binds to glucocorticoid response elements in the promoters of glucocorticoid responsive genes to activ...

Pfam Domains

GCRaa 26–401UCSCGlucocorticoid receptor

zf-C4aa 419–488UCSCDouble treble clef zinc finger, C4 type

Hormone_recepaa 549–741UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

nuclear receptor subfamily 3 group C member 1

HGNC Previous Symbol

GRL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000176.3

p.K120Q

c.358A>C

Surrounding Variants

1 paper

NM_000176.3

p.K120E

c.358A>G

1 paper

NM_000176.3

p.L121H

c.362T>A

1 paper

NM_000176.3

p.L121L

c.363T>G

3 papers

NM_000176.3

p.E123*

c.367G>T

1 paper

NM_000176.3

p.E123K

c.367G>A

1 paper

NM_000176.3

p.E116fs

c.346_347fs

1 paper

NM_000176.3

p.E123E

c.369A>G

1 paper

NM_000176.3

p.E116insFs

c.346dupG

1 paper

NM_000176.3

p.E124K

c.370G>A

1 paper

NM_000176.3

p.E116K

c.346G>A

1 paper

NM_000176.3

p.E116fs

c.346_347fs

4 papers

NM_000176.3

p.S114fs

c.340_341fs