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

2 papers

NM_001437.3

p.W335R

c.1003T>A

Surrounding Variants

2 papers

NM_001437.3

p.W335R

c.1003T>C

1 paper

NM_001437.3

p.C334S

c.1001G>C

1 paper

NM_001437.3

p.C334S

c.1000T>A

1 paper

NM_001437.3

p.E332*

c.994G>T

1 paper

NM_001437.3

p.L339*

c.1016T>G

1 paper

NM_001437.3

p.L339*

c.1016T>A

1 paper

NM_001437.3

p.L330H

c.989T>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.M340I

c.1020G>T

1 paper

NM_001437.3

p.M340I

c.1020G>C

2 papers

NM_001437.3

p.R329Q

c.986G>A