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.D2insFs

c.4_5insGG

Surrounding Variants

1 paper

NM_001437.3

p.M1I

c.3G>T

1 paper

NM_001437.3

p.M1I

c.3G>A

2 papers

NM_001437.3

p.I3V

c.7A>G

1 paper

NM_001437.3

p.K4E

c.10A>G

1 paper

NM_001437.3

p.N5K

c.15C>A

1 paper

NM_001437.3

p.S6P

c.16T>C

1 paper

NM_001437.3

p.S6L

c.17C>T

3 papers

NM_001437.3

p.S8Y

c.23C>A

1 paper

NM_001437.3

p.S8S

c.24T>A

1 paper

NM_001437.3

p.S8delFs

c.23delG

1 paper

NM_001437.3

p.S9I

c.26G>T

2 papers

NM_001437.3

p.L10V

c.28C>G