Varaico: Literature-Extracted Genetic Variants

Gene:RORC
Variant:p.S250N

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
3 papers
NM_005060.4
p.S250N
c.749G>A
Surrounding Variants
1 paper
NM_005060.4
p.R257R
c.771C>A
1 paper
NM_005060.4
p.E261K
c.781G>A
1 paper
NM_005060.4
p.R237insFs
c.710dupG
1 paper
NM_005060.4
p.E235G
c.704A>G
1 paper
NM_005060.4
p.E235A
c.704A>C
1 paper
NM_005060.4
p.E235K
c.703G>A
1 paper
NM_005060.4
p.E234ins7
c.700_701ins21
1 paper
NM_005060.4
p.L267M
c.799C>A
1 paper
NM_005060.4
p.G221_G230del0
c.663_689del27
2 papers
NM_005060.4
p.C229Y
c.686G>A
1 paper
NM_005060.4
p.Y218_S219del1
c.653_655delTAT
1 paper
NM_005060.4
p.F217delFs
c.650delA
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