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.M1_A2delins

c.2_4delinsGGA

Surrounding Variants

10 papers

NM_005654.6

p.M1T

c.2T>C

5 papers

NM_005654.6

p.M1R

c.2T>G

1 paper

NM_005654.6

p.A2delFs

c.4delG

2 papers

NM_005654.6

p.M1V

c.1A>G

2 papers

NM_005654.6

p.M1_A2Fs

c.2_4delinsGFs

1 paper

NM_005654.6

p.M1_A2del1

c.2_4delTGG

1 paper

NM_005654.6

p.A2_V4del3

c.4_11del9

1 paper

NM_005654.6

p.A2_S6del5

c.4_17del15

2 papers

NM_005654.6

p.A2fs

c.4_5fs

1 paper

NM_005654.6

p.M1_A2delFs

c.2_6del5

1 paper

NM_005654.6

p.P11L

c.32C>T

1 paper

NM_005654.6

p.A16_G18delFs

c.48_54del7