Varaico: Literature-Extracted Genetic Variants

Gene:RORC
Variant:p.R69S

RORC

111 papers

RefSeq Summary

The protein encoded by this gene is a DNA-binding transcription factor and is a member of the NR1 subfamily of nuclear hormone receptors. The specific functions of this protein are not known; however,...

Pfam Domains

zf-C4aa 29–98UCSCDouble treble clef zinc finger, C4 type
Hormone_recepaa 311–488UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

RAR related orphan receptor C

HGNC Alias Symbols

RZRG; RORG; NR1F3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005060.4
p.R69S
c.205C>A
Surrounding Variants
1 paper
NM_005060.4
p.R69H
c.206G>A
1 paper
NM_005060.4
p.C73C
c.219C>T
1 paper
NM_005060.4
p.A64insFs
c.190_191ins20
1 paper
NM_005060.4
p.A63P
c.187G>C
1 paper
NM_005060.4
p.N62delFs
c.186delG
1 paper
NM_005060.4
p.N62insFs
c.184_185insCC
1 paper
NM_005060.4
p.C61_N62insFs
c.183_184insCC
1 paper
NM_005060.4
p.R77H
c.230G>A
1 paper
NM_005060.4
p.R60H
c.179G>A
1 paper
NM_005060.4
p.S58T
c.173G>C
1 paper
NM_005060.4
p.G53delFs
c.159delG
4 papers
NM_005060.4
p.H85Y
c.253C>T
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