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.F240L

c.718T>C

Surrounding Variants

1 paper

NM_005654.6

p.F240L

c.720C>A

1 paper

NM_005654.6

p.F240L

c.720C>G

1 paper

NM_005654.6

p.N236N

c.708C>T

5 papers

NM_005654.6

p.L243_Q244delins

c.729_730delinsCT

5 papers

NM_005654.6

p.Q244*

c.730C>T

3 papers

NM_005654.6

p.W233*

c.699G>A

3 papers

NM_005654.6

p.W233*

c.698G>A

1 paper

NM_005654.6

p.Q248*

c.742C>T

1 paper

NM_005654.6

p.E232*

c.694G>T

1 paper

NM_005654.6

p.V231I

c.691G>A

8 papers

NM_005654.6

p.L252P

c.755T>C

1 paper

NM_005654.6

p.W256*

c.767G>A