Varaico: Literature-Extracted Genetic Variants

Gene:NR3C1
Variant:p.K280N

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.K280N
c.840A>T
Surrounding Variants
1 paper
NM_000176.3
p.K280K
c.840A>G
1 paper
NM_000176.3
p.E279G
c.836A>G
1 paper
NM_000176.3
p.D282D
c.846T>C
2 papers
NM_000176.3
p.K277R
c.830A>G
1 paper
NM_000176.3
p.I284V
c.850A>G
2 papers
NM_000176.3
p.K277E
c.829A>G
2 papers
NM_000176.3
p.E285*
c.853G>T
1 paper
NM_000176.3
p.V276M
c.826G>A
1 paper
NM_000176.3
p.E285E
c.855A>G
1 paper
NM_000176.3
p.L286F
c.856C>T
1 paper
NM_000176.3
p.L286P
c.857T>C
1 paper
NM_000176.3
p.L286L
c.858C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."