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.A242V

c.725C>T

Surrounding Variants

1 paper

NM_001437.3

p.A242G

c.725C>G

1 paper

NM_001437.3

p.G243G

c.729C>T

1 paper

NM_001437.3

p.H240H

c.720C>T

4 papers

NM_001437.3

p.K244E

c.730A>G

1 paper

NM_001437.3

p.H240R

c.719A>G

1 paper

NM_001437.3

p.H240D

c.718C>G

1 paper

NM_001437.3

p.L239P

c.716T>C

3 papers

NM_001437.3

p.A245delFs

c.734delG

1 paper

NM_001437.3

p.R247K

c.740G>A

1 paper

NM_001437.3

p.E237K

c.709G>A

1 paper

NM_001437.3

p.D236Y

c.706G>T

1 paper

NM_001437.3

p.D236N

c.706G>A