Varaico: Literature-Extracted Genetic Variants

NR2C1

83 papers

RefSeq Summary

This gene encodes a nuclear hormone receptor characterized by a highly conserved DNA binding domain (DBD), a variable hinge region, and a carboxy-terminal ligand binding domain (LBD) that is typical f...

Pfam Domains

zf-C4aa 111–180UCSCDouble treble clef zinc finger, C4 type

Hormone_recepaa 378–574UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

nuclear receptor subfamily 2 group C member 1

HGNC Previous Symbol

TR2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003297.4

p.E386K

c.1156G>A

Surrounding Variants

2 papers

NM_003297.4

p.T379insFs

c.1135_1136insA

1 paper

NM_003297.4

p.S404T

c.1210T>A

1 paper

NM_003297.4

p.V350I

c.1048G>A

1 paper

NM_003297.4

p.E347_G348delins

c.1041_1044delinsT

1 paper

NM_003297.4

p.D325N

c.973G>A

1 paper

NM_003297.4

p.A448S

c.1342G>T

1 paper

NM_003297.4

p.H459_N460insFs

c.1377_1378insA

1 paper

NM_003297.4

p.N460insFs

c.1378_1379insA

1 paper

NM_003297.4

p.D465Splc

c.1393+7A>G