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.M46I

c.138G>A

Surrounding Variants

1 paper

NM_001437.3

p.T47insFs

c.140_141ins4

1 paper

NM_001437.3

p.A45V

c.134C>T

1 paper

NM_001437.3

p.P44R

c.131C>G

1 paper

NM_001437.3

p.P44S

c.130C>T

1 paper

NM_001437.3

p.Y49F

c.146A>T

2 papers

NM_001437.3

p.Y49C

c.146A>G

2 papers

NM_001437.3

p.A52T

c.154G>A

1 paper

NM_001437.3

p.A52A

c.156T>A

1 paper

NM_001437.3

p.D38E

c.114C>A

1 paper

NM_001437.3

p.N55Y

c.163A>T

1 paper

NM_001437.3

p.S57S

c.171C>T

2 papers

NM_001437.3

p.S34S

c.102C>T