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

2 papers

NM_005654.6

p.F110C

c.329T>G

Surrounding Variants

2 papers

NM_005654.6

p.F109L

c.327C>A

2 papers

NM_005654.6

p.F109L

c.327C>G

2 papers

NM_005654.6

p.K111R

c.332A>G

1 paper

NM_005654.6

p.K111M

c.332A>T

2 papers

NM_005654.6

p.F109L

c.325T>C

9 papers

NM_005654.6

p.F110del1

c.328_329delTTC

14 papers

NM_005654.6

p.R112K

c.335G>A

1 paper

NM_005654.6

p.S108N

c.323G>A

2 papers

NM_005654.6

p.S108I

c.323G>T

1 paper

NM_005654.6

p.S108fs

c.322_323fs

8 papers

NM_005654.6

p.S113R

c.337A>C

3 papers

NM_005654.6

p.K107R

c.320A>G