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.C86Fs

c.258delinsTTFs

Surrounding Variants

1 paper

NM_005654.6

p.C86Y

c.257G>A

7 papers

NM_005654.6

p.C86F

c.257G>T

5 papers

NM_005654.6

p.C86R

c.256T>C

4 papers

NM_005654.6

p.V88M

c.262G>A

7 papers

NM_005654.6

p.E85*

c.253G>T

1 paper

NM_005654.6

p.C89R

c.265T>C

1 paper

NM_005654.6

p.G90_G99del10

c.268_296del30

1 paper

NM_005654.6

p.C89Y

c.266G>A

1 paper

NM_005654.6

p.Q82*

c.244C>T

1 paper

NM_005654.6

p.Q79H

c.237G>C

1 paper

NM_005654.6

p.Q79H

c.237G>T

1 paper

NM_005654.6

p.Q79*

c.235C>T