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.P13P

c.39T>C

Surrounding Variants

1 paper

NM_001437.3

p.S14S

c.42C>A

2 papers

NM_001437.3

p.S15A

c.43T>G

1 paper

NM_001437.3

p.S15T

c.43T>A

2 papers

NM_001437.3

p.S12P

c.34T>C

1 paper

NM_001437.3

p.S15F

c.44C>T

1 paper

NM_001437.3

p.N11N

c.33T>C

1 paper

NM_001437.3

p.N11D

c.31A>G

3 papers

NM_001437.3

p.L10L

c.30T>C

1 paper

NM_001437.3

p.L10L

c.30T>A

2 papers

NM_001437.3

p.L10P

c.29T>C

1 paper

NM_001437.3

p.N17Y

c.49A>T

2 papers

NM_001437.3

p.L10V

c.28C>G