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.R31fs

c.91_92fs

Surrounding Variants

1 paper

NM_005654.6

p.R31_G32del1

c.92_94delGCG

4 papers

NM_005654.6

p.R31ins0

c.91_93dupCGC

1 paper

NM_005654.6

p.A30_G33delFs

c.90_99del10

1 paper

NM_005654.6

p.A30_G36delFs

c.90_108del19

8 papers

NM_005654.6

p.Q28*

c.82C>T

2 papers

NM_005654.6

p.Q28fs

c.82_83fs

1 paper

NM_005654.6

p.G34_G36Fs

c.101_106delinsCCGGCGAGCAGCAGCAFs

1 paper

NM_005654.6

p.G35fs

c.103_104fs

6 papers

NM_005654.6

p.G35fs

c.103_104fs

2 papers

NM_005654.6

p.G35_G38Fs

c.103_113delinsCFs

1 paper

NM_005654.6

p.G35_G38Fs

c.103_113delinsCGCCGCCGCFs

1 paper

NM_005654.6

p.G35G

c.105C>G