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.L568M

c.1702T>A

Surrounding Variants

1 paper

NM_000125.4

p.L568V

c.1702T>G

7 papers

NM_000125.4

p.A569T

c.1705G>A

2 papers

NM_000125.4

p.A569S

c.1705G>T

1 paper

NM_000125.4

p.A569V

c.1706C>T

1 paper

NM_000125.4

p.S566N

c.1697G>A

1 paper

NM_000125.4

p.S566I

c.1697G>T

1 paper

NM_000125.4

p.T570A

c.1708A>G

2 papers

NM_000125.4

p.T570I

c.1709C>T

4 papers

NM_000125.4

p.Q565P

c.1694A>C

1 paper

NM_000125.4

p.A571fs

c.1711_1712fs

3 papers

NM_000125.4

p.A571V

c.1712C>T

2 papers

NM_000125.4

p.D564G

c.1691A>G