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

2 papers

NM_005654.6

p.G35_G38Fs

c.103_113delinsCFs

Surrounding Variants

1 paper

NM_005654.6

p.G35fs

c.103_104fs

6 papers

NM_005654.6

p.G35fs

c.103_104fs

1 paper

NM_005654.6

p.G35_G38Fs

c.103_113delinsCGCCGCCGCFs

1 paper

NM_005654.6

p.G35G

c.105C>G

1 paper

NM_005654.6

p.G34_G36Fs

c.101_106delinsCCGGCGAGCAGCAGCAFs

1 paper

NM_005654.6

p.G36A

c.107G>C

2 papers

NM_005654.6

p.R31fs

c.91_92fs

1 paper

NM_005654.6

p.R31_G32del1

c.92_94delGCG

5 papers

NM_005654.6

p.E39*

c.115G>T

1 paper

NM_005654.6

p.Q43del1

c.127_128delCAG

1 paper

NM_005654.6

p.E39G

c.116A>G

1 paper

NM_005654.6

p.E39V

c.116A>T