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.M340I

c.1020G>T

Surrounding Variants

1 paper

NM_001437.3

p.M340I

c.1020G>C

1 paper

NM_001437.3

p.M340I

c.1020G>A

1 paper

NM_001437.3

p.L339F

c.1017A>T

1 paper

NM_001437.3

p.L339F

c.1017A>C

1 paper

NM_001437.3

p.L339*

c.1016T>G

1 paper

NM_001437.3

p.L339*

c.1016T>A

2 papers

NM_001437.3

p.G342V

c.1025G>T

2 papers

NM_001437.3

p.G342E

c.1025G>A

3 papers

NM_001437.3

p.M344insFs

c.1030_1031insC

1 paper

NM_001437.3

p.W345C

c.1035G>T

1 paper

NM_001437.3

p.W345C

c.1035G>C

2 papers

NM_001437.3

p.R346C

c.1036C>T