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

5 papers

NM_005060.4

p.Q441*

c.1321C>T

Surrounding Variants

1 paper

NM_005060.4

p.L446delFs

c.1336delG

1 paper

NM_005060.4

p.L446L

c.1338G>T

1 paper

NM_005060.4

p.H452Q

c.1356T>G

1 paper

NM_005060.4

p.H452Q

c.1356T>A

1 paper

NM_005060.4

p.H429Splc

c.1286-20G>A

1 paper

NM_005060.4

p.I462_L463delFs

c.1386_1387delGG

2 papers

NM_005060.4

p.A464G

c.1391C>G

1 paper

NM_005060.4

p.L463_A464del0

c.1387_1392del6

1 paper

NM_005060.4

p.K465_L466Splc

c.1395+47C>G

1 paper

NM_005060.4

p.K465_L466Splc

c.1395+65C>T

1 paper

NM_005060.4

p.S408N

c.1223G>A

1 paper

NM_005060.4

p.L407V

c.1219C>G