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.E222G

c.665A>G

Surrounding Variants

1 paper

NM_001437.3

p.E222Q

c.664G>C

1 paper

NM_001437.3

p.E222K

c.664G>A

6 papers

NM_001437.3

p.R221G

c.661A>G

1 paper

NM_001437.3

p.R220Q

c.659G>A

1 paper

NM_001437.3

p.R220W

c.658C>T

1 paper

NM_001437.3

p.S219S

c.657C>T

1 paper

NM_001437.3

p.Y226D

c.676T>G

1 paper

NM_001437.3

p.R227C

c.679C>T

1 paper

NM_001437.3

p.L228F

c.682C>T

1 paper

NM_001437.3

p.D236Y

c.706G>T

1 paper

NM_001437.3

p.D236N

c.706G>A

1 paper

NM_001437.3

p.E237K

c.709G>A