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.V255_E257del3

c.763_770del9

Surrounding Variants

1 paper

NM_001437.3

p.L259M

c.775C>A

1 paper

NM_001437.3

p.R256W

c.766C>T

1 paper

NM_001437.3

p.D261N

c.781G>A

1 paper

NM_001437.3

p.D261D

c.783C>T

1 paper

NM_001437.3

p.R254G

c.760C>G

2 papers

NM_001437.3

p.A252T

c.754G>A

1 paper

NM_001437.3

p.G250A

c.749G>C

1 paper

NM_001437.3

p.E266_Q267insC

c.796_800ins3

1 paper

NM_001437.3

p.G250S

c.748G>A

1 paper

NM_001437.3

p.G249D

c.746G>A

1 paper

NM_001437.3

p.Q267H

c.801G>T

1 paper

NM_001437.3

p.Q267H

c.801G>C