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

1–12 of 376 variants

26 papers

NM_001437.3

p.C133R

c.397T>C

22 papers

NM_001437.3

p.L117L

c.351A>G

6 papers

NM_001437.3

p.R221G

c.661A>G

6 papers

NM_001437.3

p.L413V

c.1237C>G

4 papers

NM_001437.3

p.N189I

c.566A>T

4 papers

NM_001437.3

p.K244E

c.730A>G

4 papers

NM_001437.3

p.I316delFs

c.948delA

4 papers

NM_001437.3

p.V328V

c.984G>A

4 papers

NM_001437.3

p.R346H

c.1037G>A

3 papers

NM_001437.3

p.S8Y

c.23C>A

3 papers

NM_001437.3

p.L10L

c.30T>C

3 papers

NM_001437.3

p.P24insFs

c.70_71insG