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.R366H

c.1097G>A

Surrounding Variants

1 paper

NM_005654.6

p.R366P

c.1097G>C

2 papers

NM_005654.6

p.R366C

c.1096C>T

9 papers

NM_005654.6

p.G368D

c.1103G>A

4 papers

NM_005654.6

p.N362fs

c.1084_1085fs

1 paper

NM_005654.6

p.N362fs

c.1084_1085fs

3 papers

NM_005654.6

p.R373_P375del0

c.1118_1123del6

1 paper

NM_005654.6

p.Y360*

c.1080C>A

1 paper

NM_005654.6

p.Y360*

c.1080C>G

5 papers

NM_005654.6

p.Y360delFs

c.1080delC

7 papers

NM_005654.6

p.L372P

c.1115T>C

8 papers

NM_005654.6

p.R373*

c.1117C>T

1 paper

NM_005654.6

p.Q359*

c.1075C>T