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.M286I

c.858G>C

Surrounding Variants

1 paper

NM_000125.4

p.M286I

c.858G>A

1 paper

NM_000125.4

p.M286I

c.858G>T

1 paper

NM_000125.4

p.R287*

c.859A>T

1 paper

NM_000125.4

p.M286K

c.857T>A

3 papers

NM_000125.4

p.M286T

c.857T>C

1 paper

NM_000125.4

p.D285D

c.855C>T

1 paper

NM_000125.4

p.A288T

c.862G>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.D285N

c.853G>A

1 paper

NM_000125.4

p.A289D

c.866C>A

2 papers

NM_000125.4

p.G284R

c.850G>A