Varaico: Literature-Extracted Genetic Variants

ESR2

549 papers

RefSeq Summary

This gene encodes a member of the family of estrogen receptors and superfamily of nuclear receptor transcription factors. The gene product contains an N-terminal DNA binding domain and C-terminal liga...

Pfam Domains

ERbeta_Naa 12–125UCSCEstrogen receptor beta

zf-C4aa 147–216UCSCDouble treble clef zinc finger, C4 type

Hormone_recepaa 283–482UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

estrogen receptor 2

HGNC Alias Symbols

NR3A2; Erb; ER-beta

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001437.3

p.S463P

c.1387T>C

Surrounding Variants

1 paper

NM_001437.3

p.L462P

c.1385T>C

1 paper

NM_001437.3

p.V465G

c.1394T>G

1 paper

NM_001437.3

p.L458H

c.1373T>A

1 paper

NM_001437.3

p.A468V

c.1403C>T

1 paper

NM_001437.3

p.A468G

c.1403C>G

1 paper

NM_001437.3

p.L455P

c.1364T>C

1 paper

NM_001437.3

p.R454H

c.1361G>A

1 paper

NM_001437.3

p.R454C

c.1360C>T

1 paper

NM_001437.3

p.G445S

c.1333G>A

1 paper

NM_001437.3

p.S444N

c.1331G>A

1 paper

NM_001437.3

p.A442V

c.1325C>T

1 paper

NM_001437.3

p.D435Y

c.1303G>T