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.K246Q

c.736A>C

Surrounding Variants

1 paper

NM_000176.3

p.K246E

c.736A>G

1 paper

NM_000176.3

p.K246M

c.737A>T

1 paper

NM_000176.3

p.P247S

c.739C>T

1 paper

NM_000176.3

p.P247insFs

c.740_741insCC

2 papers

NM_000176.3

p.L248V

c.742C>G

1 paper

NM_000176.3

p.I249V

c.745A>G

1 paper

NM_000176.3

p.I249fs

c.745_746fs

1 paper

NM_000176.3

p.N242fs

c.724_725fs

1 paper

NM_000176.3

p.S241fs

c.721_722fs

1 paper

NM_000176.3

p.N240N

c.720C>T

1 paper

NM_000176.3

p.N240fs

c.718_719fs

1 paper

NM_000176.3

p.D252N

c.754G>A