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.A427V

c.1280C>T

Surrounding Variants

3 papers

NM_001437.3

p.L426R

c.1277T>G

1 paper

NM_001437.3

p.L430P

c.1289T>C

3 papers

NM_001437.3

p.N431_A432insFs

c.1293_1294insG

2 papers

NM_001437.3

p.A432D

c.1295C>A

1 paper

NM_001437.3

p.S422G

c.1264A>G

2 papers

NM_001437.3

p.A420G

c.1259C>G

1 paper

NM_001437.3

p.D419E

c.1257T>A

1 paper

NM_001437.3

p.D435Y

c.1303G>T

1 paper

NM_001437.3

p.T417P

c.1249A>C

1 paper

NM_001437.3

p.A416V

c.1247C>T

1 paper

NM_001437.3

p.L413L

c.1237C>T

6 papers

NM_001437.3

p.L413V

c.1237C>G