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.G213E

c.638G>A

Surrounding Variants

1 paper

NM_001437.3

p.V212V

c.636G>A

1 paper

NM_001437.3

p.M214V

c.640A>G

1 paper

NM_001437.3

p.M214I

c.642G>T

1 paper

NM_001437.3

p.M214I

c.642G>C

1 paper

NM_001437.3

p.M214I

c.642G>A

1 paper

NM_001437.3

p.E211K

c.631G>A

1 paper

NM_001437.3

p.C209R

c.625T>C

1 paper

NM_001437.3

p.K208M

c.623A>T

2 papers

NM_001437.3

p.R207Q

c.620G>A

2 papers

NM_001437.3

p.R207W

c.619C>T

1 paper

NM_001437.3

p.R205Q

c.614G>A

3 papers

NM_001437.3

p.C201F

c.602G>T