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.L89insFs

c.266_267insC

Surrounding Variants

1 paper

NM_001437.3

p.V91I

c.271G>A

1 paper

NM_001437.3

p.H85_L86del1

c.255_257delAGG

2 papers

NM_001437.3

p.R93C

c.277C>T

2 papers

NM_001437.3

p.R93H

c.278G>A

2 papers

NM_001437.3

p.G84V

c.251G>T

1 paper

NM_001437.3

p.Q94Q

c.282G>A

1 paper

NM_001437.3

p.P83T

c.247C>A

1 paper

NM_001437.3

p.P81L

c.242C>T

1 paper

NM_001437.3

p.L98V

c.292C>G

1 paper

NM_001437.3

p.L79S

c.236T>C

1 paper

NM_001437.3

p.Y99*

c.297T>A

1 paper

NM_001437.3

p.A100V

c.299C>T