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.S309fs

c.925_926fs

Surrounding Variants

2 papers

NM_000125.4

p.S309F

c.926C>T

2 papers

NM_000125.4

p.L308fs

c.922_923fs

1 paper

NM_000125.4

p.A307D

c.920C>A

2 papers

NM_000125.4

p.A307T

c.919G>A

1 paper

NM_000125.4

p.A307P

c.919G>C

1 paper

NM_000125.4

p.A307S

c.919G>T

7 papers

NM_000125.4

p.T311M

c.932C>T

2 papers

NM_000125.4

p.T311T

c.933G>A

2 papers

NM_000125.4

p.L306M

c.916C>A

1 paper

NM_000125.4

p.A312S

c.934G>T

1 paper

NM_000125.4

p.A312D

c.935C>A

1 paper

NM_000125.4

p.S305R

c.915C>G