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

1–12 of 266 variants

14 papers

NM_005654.6

p.R112K

c.335G>A

11 papers

NM_005654.6

p.R135S

c.403C>A

10 papers

NM_005654.6

p.M1T

c.2T>C

10 papers

NM_005654.6

p.Y171*

c.513C>A

10 papers

NM_005654.6

p.Y171*

c.513C>G

9 papers

NM_005654.6

p.F110del1

c.328_329delTTC

9 papers

NM_005654.6

p.R115P

c.344G>C

9 papers

NM_005654.6

p.R135C

c.403C>T

9 papers

NM_005654.6

p.R142L

c.425G>T

9 papers

NM_005654.6

p.A155T

c.463G>A

9 papers

NM_005654.6

p.G368D

c.1103G>A

8 papers

NM_005654.6

p.Q28*

c.82C>T