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.E181del1

c.541_543delGAG

Surrounding Variants

3 papers

NM_000125.4

p.K180R

c.539A>G

1 paper

NM_000125.4

p.E181K

c.541G>A

3 papers

NM_000125.4

p.E181A

c.542A>C

1 paper

NM_000125.4

p.E181V

c.542A>T

1 paper

NM_000125.4

p.S178Y

c.533C>A

1 paper

NM_000125.4

p.T182insFs

c.544dupA

1 paper

NM_000125.4

p.T182fs

c.544_545fs

1 paper

NM_000125.4

p.T182P

c.544A>C

1 paper

NM_000125.4

p.T182N

c.545C>A

2 papers

NM_000125.4

p.T182I

c.545C>T

1 paper

NM_000125.4

p.E177V

c.530A>T

1 paper

NM_000125.4

p.R183C

c.547C>T