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.K303M

c.908A>T

Surrounding Variants

2 papers

NM_000125.4

p.K303T

c.908A>C

73 papers

NM_000125.4

p.K303R

c.908A>G

1 paper

NM_000125.4

p.K303Q

c.907A>C

1 paper

NM_000125.4

p.K303N

c.909G>C

1 paper

NM_000125.4

p.K303N

c.909G>T

1 paper

NM_000125.4

p.K302T

c.905A>C

4 papers

NM_000125.4

p.K302R

c.905A>G

3 papers

NM_000125.4

p.N304S

c.911A>G

1 paper

NM_000125.4

p.K302Q

c.904A>C

1 paper

NM_000125.4

p.K302E

c.904A>G

1 paper

NM_000125.4

p.S305C

c.913A>T

1 paper

NM_000125.4

p.S305fs

c.913_914fs