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.G56A

c.167G>C

Surrounding Variants

1 paper

NM_005654.6

p.G56S

c.166G>A

1 paper

NM_005654.6

p.Q57*

c.169C>T

1 paper

NM_005654.6

p.G59G

c.177A>G

2 papers

NM_005654.6

p.T51P

c.151A>C

1 paper

NM_005654.6

p.H50Q

c.150C>A

1 paper

NM_005654.6

p.H50Q

c.150C>G

1 paper

NM_005654.6

p.P64delFs

c.192delC

1 paper

NM_005654.6

p.P64A

c.190C>G

1 paper

NM_005654.6

p.G65fs

c.193_194fs

1 paper

NM_005654.6

p.A48_T54del7

c.142_161del21

1 paper

NM_005654.6

p.A67_D69insFs

c.201_207dup7

1 paper

NM_005654.6

p.G68_D69delFs

c.204_205delGG