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.R198C

c.592C>T

Surrounding Variants

1 paper

NM_001437.3

p.R198S

c.592C>A

1 paper

NM_001437.3

p.R198P

c.593G>C

2 papers

NM_001437.3

p.R197W

c.589C>T

1 paper

NM_001437.3

p.R198_K199insFs

c.594_595insC

1 paper

NM_001437.3

p.K199M

c.596A>T

1 paper

NM_001437.3

p.S200R

c.598A>C

1 paper

NM_001437.3

p.S200R

c.600C>G

1 paper

NM_001437.3

p.S200R

c.600C>A

1 paper

NM_001437.3

p.K195T

c.584A>C

3 papers

NM_001437.3

p.C201F

c.602G>T

1 paper

NM_001437.3

p.S200_C201delFs

c.600_601delAG

3 papers

NM_001437.3

p.D194N

c.580G>A