Varaico: Literature-Extracted Genetic Variants

ESR1

3,239 papers

RefSeq Summary

This gene encodes an estrogen receptor and ligand-activated transcription factor. The canonical protein contains an N-terminal ligand-independent transactivation domain, a central DNA binding domain, ...

Pfam Domains

Oest_recepaa 42–181UCSCOestrogen receptor

zf-C4aa 183–252UCSCDouble treble clef zinc finger, C4 type

Hormone_recepaa 332–531UCSCLigand-binding domain of nuclear hormone receptor

ESR1_Caa 552–595UCSCOestrogen-type nuclear receptor final C-terminal

Gene Aliases

HGNC Name

estrogen receptor 1

HGNC Alias Symbols

ER; NR3A1; Era; ER-alpha

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000125.4

p.L291R

c.872T>G

Surrounding Variants

3 papers

NM_000125.4

p.W292R

c.874T>A

1 paper

NM_000125.4

p.N290D

c.868A>G

2 papers

NM_000125.4

p.W292C

c.876G>C

1 paper

NM_000125.4

p.P293S

c.877C>T

1 paper

NM_000125.4

p.N290delFs

c.868delA

1 paper

NM_000125.4

p.A289D

c.866C>A

2 papers

NM_000125.4

p.A288D

c.863C>A

1 paper

NM_000125.4

p.A288V

c.863C>T

1 paper

NM_000125.4

p.S294R

c.882C>G

1 paper

NM_000125.4

p.S294S

c.882C>T

1 paper

NM_000125.4

p.A288T

c.862G>A

1 paper

NM_000125.4

p.P295S

c.883C>T