Varaico: Literature-Extracted Genetic Variants

NR2F1

176 papers

RefSeq Summary

The protein encoded by this gene is a nuclear hormone receptor and transcriptional regulator. The encoded protein acts as a homodimer and binds to 5'-AGGTCA-3' repeats. Defects in this gene are a caus...

Pfam Domains

Hormone_recepaa 54–244UCSCLigand-binding domain of nuclear hormone receptor

zf-C4aa 84–153UCSCDouble treble clef zinc finger, C4 type

Gene Aliases

HGNC Name

nuclear receptor subfamily 2 group F member 1

HGNC Previous Symbols

ERBAL3; TFCOUP1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_005654.6

p.G95V

c.284G>T

Surrounding Variants

7 papers

NM_005654.6

p.K96E

c.286A>G

2 papers

NM_005654.6

p.H97fs

c.289_290fs

1 paper

NM_005654.6

p.H97D

c.289C>G

2 papers

NM_005654.6

p.H97Y

c.289C>T

4 papers

NM_005654.6

p.H97P

c.290A>C

6 papers

NM_005654.6

p.H97delFs

c.291delC

4 papers

NM_005654.6

p.Y98H

c.292T>C

4 papers

NM_005654.6

p.Y98fs

c.292_293fs

3 papers

NM_005654.6

p.Y98C

c.293A>G

1 paper

NM_005654.6

p.G99C

c.295G>T

1 paper

NM_005654.6

p.C89Y

c.266G>A

1 paper

NM_005654.6

p.C89R

c.265T>C