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.E315A

c.944A>C

Surrounding Variants

1 paper

NM_005060.4

p.R319W

c.955C>T

1 paper

NM_005060.4

p.R319Q

c.956G>A

1 paper

NM_005060.4

p.C320insFs

c.958_959insT

3 papers

NM_005060.4

p.Q329*

c.985C>T

1 paper

NM_005060.4

p.Y330H

c.988T>C

2 papers

NM_005060.4

p.Y330Y

c.990C>T

1 paper

NM_005060.4

p.A335T

c.1003G>A

1 paper

NM_005060.4

p.K336_R337insG

c.1006_1010ins3

1 paper

NM_005060.4

p.Q346K

c.1036C>A

1 paper

NM_005060.4

p.L352F

c.1054C>T

1 paper

NM_005060.4

p.A355_G356del1

c.1064_1066delCTG

1 paper

NM_005060.4

p.G356Splc

c.1067-4C>A