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.C149C

c.447C>T

Surrounding Variants

1 paper

NM_001437.3

p.C149*

c.447C>A

1 paper

NM_001437.3

p.C149G

c.445T>G

1 paper

NM_001437.3

p.C152Y

c.455G>A

1 paper

NM_001437.3

p.A146T

c.436G>A

1 paper

NM_001437.3

p.S153_D154insFs

c.459_460insG

3 papers

NM_001437.3

p.D154N

c.460G>A

1 paper

NM_001437.3

p.D154G

c.461A>G

2 papers

NM_001437.3

p.A156T

c.466G>A

1 paper

NM_001437.3

p.S157P

c.469T>C

3 papers

NM_001437.3

p.S157L

c.470C>T

1 paper

NM_001437.3

p.G141C

c.421G>T

1 paper

NM_001437.3

p.P140_G141ins4

c.418_422ins12