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.L544V

c.1630C>G

Surrounding Variants

1 paper

NM_000125.4

p.L544L

c.1630C>T

2 papers

NM_000125.4

p.M543I

c.1629G>A

2 papers

NM_000125.4

p.M543I

c.1629G>C

2 papers

NM_000125.4

p.M543I

c.1629G>T

1 paper

NM_000125.4

p.L544delFs

c.1630delC

2 papers

NM_000125.4

p.L544P

c.1631T>C

1 paper

NM_000125.4

p.L544R

c.1631T>G

2 papers

NM_000125.4

p.M543K

c.1628T>A

2 papers

NM_000125.4

p.M543T

c.1628T>C

2 papers

NM_000125.4

p.M543R

c.1628T>G

1 paper

NM_000125.4

p.M543L

c.1627A>C

4 papers

NM_000125.4

p.M543V

c.1627A>G