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

2 papers

NM_000125.4

p.S317G

c.949A>G

Surrounding Variants

1 paper

NM_000125.4

p.S317C

c.949A>T

1 paper

NM_000125.4

p.S317_A318delFs

c.950_953del4

1 paper

NM_000125.4

p.S317_A318insFs

c.951_952insA

2 papers

NM_000125.4

p.V316I

c.946G>A

1 paper

NM_000125.4

p.A318delFs

c.953delC

1 paper

NM_000125.4

p.A318V

c.953C>T

1 paper

NM_000125.4

p.M315I

c.945G>A

1 paper

NM_000125.4

p.M315I

c.945G>C

1 paper

NM_000125.4

p.M315I

c.945G>T

1 paper

NM_000125.4

p.A318A

c.954C>T

1 paper

NM_000125.4

p.M315insFs

c.943_944insC

1 paper

NM_000125.4

p.M315_V316insC

c.943_947ins3