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.L118_T119delFs

c.354_357del4

Surrounding Variants

1 paper

NM_005654.6

p.L118fs

c.352_353fs

3 papers

NM_005654.6

p.L118*

c.353T>A

3 papers

NM_005654.6

p.L118*

c.353T>G

2 papers

NM_005654.6

p.Y120insFs

c.359dupA

1 paper

NM_005654.6

p.Y120C

c.359A>G

1 paper

NM_005654.6

p.Y120F

c.359A>T

3 papers

NM_005654.6

p.Y120*

c.360C>A

3 papers

NM_005654.6

p.Y120*

c.360C>G

9 papers

NM_005654.6

p.R115P

c.344G>C

3 papers

NM_005654.6

p.C122S

c.364T>A

8 papers

NM_005654.6

p.S113R

c.339C>A

8 papers

NM_005654.6

p.S113R

c.339C>G