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.Q72*

c.214C>T

Surrounding Variants

1 paper

NM_005654.6

p.G71G

c.213C>A

1 paper

NM_005654.6

p.G71D

c.212G>A

1 paper

NM_005654.6

p.K70fs

c.208_209fs

1 paper

NM_005654.6

p.P74S

c.220C>T

1 paper

NM_005654.6

p.K70_G71delFs

c.208_211del4

1 paper

NM_005654.6

p.G68_D69delFs

c.204_205delGG

1 paper

NM_005654.6

p.A67_D69insFs

c.201_207dup7

1 paper

NM_005654.6

p.Q79*

c.235C>T

1 paper

NM_005654.6

p.G65fs

c.193_194fs

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.P64A

c.190C>G