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.P535delins

c.1604_1605delinsGT

Surrounding Variants

33 papers

NM_000125.4

p.P535H

c.1604C>A

1 paper

NM_000125.4

p.P535insFs

c.1604_1605insT

1 paper

NM_000125.4

p.P535R

c.1604C>G

1 paper

NM_000125.4

p.L536del1

c.1606_1607delCTC

1 paper

NM_000125.4

p.P535_Y537del0

c.1605_1610del6

1 paper

NM_000125.4

p.P535T

c.1603C>A

1 paper

NM_000125.4

p.P535P

c.1605C>A

2 papers

NM_000125.4

p.P535A

c.1603C>G

4 papers

NM_000125.4

p.P535S

c.1603C>T

1 paper

NM_000125.4

p.P535P

c.1605C>T

2 papers

NM_000125.4

p.L536I

c.1606C>A

1 paper

NM_000125.4

p.L536V

c.1606C>G