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

4 papers

NM_005654.6

p.K323fs

c.967_968fs

Surrounding Variants

2 papers

NM_005654.6

p.K323T

c.968A>C

4 papers

NM_005654.6

p.K323delFs

c.967_968delAA

2 papers

NM_005654.6

p.L322H

c.965T>A

1 paper

NM_005654.6

p.C321_L322del2

c.961_965del6

3 papers

NM_005654.6

p.E318D

c.954G>C

3 papers

NM_005654.6

p.E318D

c.954G>T

1 paper

NM_005654.6

p.F328insFs

c.983dupT

6 papers

NM_005654.6

p.F328_S330del3

c.982_989del9

1 paper

NM_005654.6

p.T329fs

c.985_986fs

4 papers

NM_005654.6

p.A311P

c.931G>C

1 paper

NM_005654.6

p.K310Q

c.928A>C

1 paper

NM_005654.6

p.D331Splc

c.991+19G>A