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

1 paper

NM_005654.6

p.C128F

c.383G>T

Surrounding Variants

2 papers

NM_005654.6

p.C128Y

c.383G>A

8 papers

NM_005654.6

p.C128R

c.382T>C

2 papers

NM_005654.6

p.N127fs

c.379_380fs

1 paper

NM_005654.6

p.I130insFs

c.389dupT

1 paper

NM_005654.6

p.N127insFs

c.380dupA

1 paper

NM_005654.6

p.I130S

c.389T>G

5 papers

NM_005654.6

p.C122W

c.366C>G

3 papers

NM_005654.6

p.C122S

c.365G>C

1 paper

NM_005654.6

p.C122F

c.365G>T

3 papers

NM_005654.6

p.C122S

c.364T>A

11 papers

NM_005654.6

p.R135S

c.403C>A

1 paper

NM_005654.6

p.R135G

c.403C>G