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.N131S

c.392A>G

Surrounding Variants

1 paper

NM_001437.3

p.R132C

c.394C>T

1 paper

NM_001437.3

p.G130R

c.388G>A

26 papers

NM_001437.3

p.C133R

c.397T>C

1 paper

NM_001437.3

p.A134V

c.401C>T

1 paper

NM_001437.3

p.V128L

c.382G>C

1 paper

NM_001437.3

p.K127M

c.380A>T

1 paper

NM_001437.3

p.P140_G141ins4

c.418_422ins12

1 paper

NM_001437.3

p.P140T

c.418C>A

1 paper

NM_001437.3

p.G141C

c.421G>T

1 paper

NM_001437.3

p.A146T

c.436G>A

1 paper

NM_001437.3

p.C149G

c.445T>G

1 paper

NM_001437.3

p.C149C

c.447C>T