Varaico: Literature-Extracted Genetic Variants

Gene:NR3C1
Variant:p.P349L

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.P349L
c.1046C>T
Surrounding Variants
1 paper
NM_000176.3
p.L341H
c.1022T>A
1 paper
NM_000176.3
p.S340C
c.1019C>G
1 paper
NM_000176.3
p.N337S
c.1010A>G
1 paper
NM_000176.3
p.N337fs
c.1009_1010fs
2 papers
NM_000176.3
p.M336fs
c.1006_1007fs
1 paper
NM_000176.3
p.E362K
c.1084G>A
1 paper
NM_000176.3
p.D335Fs
c.1003delinsGAFs
1 paper
NM_000176.3
p.N363I
c.1088A>T
334 papers
NM_000176.3
p.N363S
c.1088A>G
1 paper
NM_000176.3
p.N365S
c.1094A>G
1 paper
NM_000176.3
p.Y332*
c.996C>G
1 paper
NM_000176.3
p.Y332*
c.996C>A
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