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.A313V

c.938C>T

Surrounding Variants

1 paper

NM_001437.3

p.A313_K314insFs

c.939_940insT

1 paper

NM_001437.3

p.W312C

c.936G>T

1 paper

NM_001437.3

p.W312C

c.936G>C

2 papers

NM_001437.3

p.K314R

c.941A>G

1 paper

NM_001437.3

p.K315_I316insC

c.943_947ins3

1 paper

NM_001437.3

p.P317T

c.949C>A

4 papers

NM_001437.3

p.I316delFs

c.948delA

1 paper

NM_001437.3

p.V307L

c.919G>T

1 paper

NM_001437.3

p.V307I

c.919G>A

1 paper

NM_001437.3

p.K304T

c.911A>C

1 paper

NM_001437.3

p.D303G

c.908A>G

1 paper

NM_001437.3

p.D303A

c.908A>C