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.C191Y

c.572G>A

Surrounding Variants

2 papers

NM_001437.3

p.C191S

c.572G>C

1 paper

NM_001437.3

p.C191G

c.571T>G

1 paper

NM_001437.3

p.C191R

c.571T>C

1 paper

NM_001437.3

p.C191S

c.571T>A

1 paper

NM_001437.3

p.Q190H

c.570G>T

1 paper

NM_001437.3

p.Q190H

c.570G>C

1 paper

NM_001437.3

p.N189K

c.567T>G

1 paper

NM_001437.3

p.N189K

c.567T>A

1 paper

NM_001437.3

p.I193T

c.578T>C

1 paper

NM_001437.3

p.I193N

c.578T>A

4 papers

NM_001437.3

p.N189I

c.566A>T

1 paper

NM_001437.3

p.N189Y

c.565A>T