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

7 papers

NM_005654.6

p.C146R

c.436T>C

Surrounding Variants

3 papers

NM_005654.6

p.C146Y

c.437G>A

1 paper

NM_005654.6

p.K148insFs

c.444dupA

1 paper

NM_005654.6

p.V149fs

c.445_446fs

6 papers

NM_005654.6

p.R142H

c.425G>A

1 paper

NM_005654.6

p.R142P

c.425G>C

9 papers

NM_005654.6

p.R142L

c.425G>T

2 papers

NM_005654.6

p.R142C

c.424C>T

1 paper

NM_005654.6

p.G150V

c.449G>T

1 paper

NM_005654.6

p.C141S

c.422G>C

1 paper

NM_005654.6

p.M151V

c.451A>G

1 paper

NM_005654.6

p.C141S

c.421T>A

2 papers

NM_005654.6

p.M151K

c.452T>A