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.V292I

c.874G>A

Surrounding Variants

1 paper

NM_005654.6

p.A294P

c.880G>C

3 papers

NM_005654.6

p.F295L

c.883T>C

3 papers

NM_005654.6

p.F295L

c.885C>A

3 papers

NM_005654.6

p.F295L

c.885C>G

2 papers

NM_005654.6

p.S285*

c.854C>A

2 papers

NM_005654.6

p.Q303*

c.907C>T

2 papers

NM_005654.6

p.Q303H

c.909G>C

2 papers

NM_005654.6

p.Q303H

c.909G>T

1 paper

NM_005654.6

p.V306M

c.916G>A

1 paper

NM_005654.6

p.K310Q

c.928A>C

4 papers

NM_005654.6

p.A311P

c.931G>C

3 papers

NM_005654.6

p.E318D

c.954G>C