Varaico: Literature-Extracted Genetic Variants

Gene:RORC
Variant:p.Y186*

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
2 papers
NM_005060.4
p.Y186*
c.558T>G
Surrounding Variants
2 papers
NM_005060.4
p.Y186*
c.558T>A
1 paper
NM_005060.4
p.N188_N189delFs
c.563_566del4
1 paper
NM_005060.4
p.G183_P184insCC
c.547_551ins6
1 paper
NM_005060.4
p.P174fs
c.520_521fs
2 papers
NM_005060.4
p.C172insFs
c.514dupT
1 paper
NM_005060.4
p.R208W
c.622C>T
1 paper
NM_005060.4
p.D165G
c.494A>G
1 paper
NM_005060.4
p.D165H
c.493G>C
1 paper
NM_005060.4
p.G209C
c.625G>T
1 paper
NM_005060.4
p.S163S
c.489G>A
1 paper
NM_005060.4
p.G156_G161delFs
c.467_483del17
1 paper
NM_005060.4
p.P159S
c.475C>T
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