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.P178S

c.532C>T

Surrounding Variants

1 paper

NM_005654.6

p.D177fs

c.529_530fs

1 paper

NM_005654.6

p.D177delFs

c.529delG

10 papers

NM_005654.6

p.Y171*

c.513C>A

10 papers

NM_005654.6

p.Y171*

c.513C>G

1 paper

NM_005654.6

p.G187C

c.559G>T

1 paper

NM_005654.6

p.G169fs

c.505_506fs

2 papers

NM_005654.6

p.P166L

c.497C>T

1 paper

NM_005654.6

p.T164_N167insFs

c.491_500dup10

1 paper

NM_005654.6

p.E196K

c.586G>A

3 papers

NM_005654.6

p.T200R

c.599C>G

2 papers

NM_005654.6

p.S201_R202delFs

c.603_606del4

4 papers

NM_005654.6

p.S201*

c.602C>A