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.T102I

c.305C>T

Surrounding Variants

1 paper

NM_005654.6

p.C103W

c.309C>G

3 papers

NM_005654.6

p.E104G

c.311A>G

4 papers

NM_005654.6

p.G105S

c.313G>A

4 papers

NM_005654.6

p.G105D

c.314G>A

1 paper

NM_005654.6

p.G99C

c.295G>T

3 papers

NM_005654.6

p.Y98C

c.293A>G

1 paper

NM_005654.6

p.C106Y

c.317G>A

1 paper

NM_005654.6

p.K107_S108delFs

c.321_322delAA

4 papers

NM_005654.6

p.Y98H

c.292T>C

4 papers

NM_005654.6

p.Y98fs

c.292_293fs

2 papers

NM_005654.6

p.K107E

c.319A>G

4 papers

NM_005654.6

p.H97P

c.290A>C