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.A16_G18delFs

c.48_54del7

Surrounding Variants

1 paper

NM_005654.6

p.A16D

c.47C>A

1 paper

NM_005654.6

p.G17R

c.49G>A

1 paper

NM_005654.6

p.G17R

c.49G>C

1 paper

NM_005654.6

p.G17fs

c.49_50fs

4 papers

NM_005654.6

p.G17_P23insFs

c.51_69dup19

1 paper

NM_005654.6

p.P20delFs

c.60delC

1 paper

NM_005654.6

p.P11L

c.32C>T

1 paper

NM_005654.6

p.G21fs

c.61_62fs

4 papers

NM_005654.6

p.N24fs

c.70_71fs

1 paper

NM_005654.6

p.P25A

c.73C>G

2 papers

NM_005654.6

p.A26_G32delFs

c.78_96del19

8 papers

NM_005654.6

p.Q28*

c.82C>T