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

22 papers

NM_001437.3

p.L117L

c.351A>G

Surrounding Variants

2 papers

NM_001437.3

p.V119L

c.355G>T

1 paper

NM_001437.3

p.T116A

c.346A>G

1 paper

NM_001437.3

p.N120Y

c.358A>T

1 paper

NM_001437.3

p.H115L

c.344A>T

1 paper

NM_001437.3

p.N120N

c.360C>T

1 paper

NM_001437.3

p.N120K

c.360C>G

1 paper

NM_001437.3

p.E114K

c.340G>A

3 papers

NM_001437.3

p.S112*

c.335C>A

1 paper

NM_001437.3

p.R111G

c.331A>G

1 paper

NM_001437.3

p.A110V

c.329C>T

1 paper

NM_001437.3

p.A110T

c.328G>A

1 paper

NM_001437.3

p.S105_P106insFs

c.315_316insC