Varaico: Literature-Extracted Genetic Variants

Gene:NR3C1
Variant:p.Y332*

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.Y332*
c.996C>G
Surrounding Variants
1 paper
NM_000176.3
p.Y332*
c.996C>A
1 paper
NM_000176.3
p.D335Fs
c.1003delinsGAFs
2 papers
NM_000176.3
p.M336fs
c.1006_1007fs
1 paper
NM_000176.3
p.N337fs
c.1009_1010fs
1 paper
NM_000176.3
p.N337S
c.1010A>G
1 paper
NM_000176.3
p.S340C
c.1019C>G
1 paper
NM_000176.3
p.L341H
c.1022T>A
1 paper
NM_000176.3
p.G323G
c.969T>C
2 papers
NM_000176.3
p.G323V
c.968G>T
5 papers
NM_000176.3
p.V321A
c.962T>C
1 paper
NM_000176.3
p.V321I
c.961G>A
1 paper
NM_000176.3
p.A318delFs
c.953delG
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