Varaico: Literature-Extracted Genetic Variants

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.S38P

c.112T>C

Surrounding Variants

5 papers

NM_005060.4

p.S38L

c.113C>T

1 paper

NM_005060.4

p.S39fs

c.115_116fs

1 paper

NM_005060.4

p.G35_D36insFs

c.104_107dup4

1 paper

NM_005060.4

p.G35insFs

c.105dupG

1 paper

NM_005060.4

p.D36insFs

c.106_107insT

1 paper

NM_005060.4

p.V45F

c.133G>T

2 papers

NM_005060.4

p.V28E

c.83T>A

1 paper

NM_005060.4

p.C48Y

c.143G>A

2 papers

NM_005060.4

p.Q25*

c.73C>T

NM_001001523.2

p.Q4*

c.10C>T

1 paper

NM_005060.4

p.S24*

c.71C>G

1 paper

NM_005060.4

p.S24*

c.71C>A

1 paper

NM_005060.4

p.K52_G53Splc

c.156+24A>C