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.N519S

c.1556A>G

Surrounding Variants

4 papers

NM_000125.4

p.N519D

c.1555A>G

1 paper

NM_000125.4

p.K520fs

c.1558_1559fs

1 paper

NM_000125.4

p.K520fs

c.1558_1559fs

1 paper

NM_000125.4

p.K520R

c.1559A>G

1 paper

NM_000125.4

p.S518_N519delFs

c.1554_1557del4

1 paper

NM_000125.4

p.G521S

c.1561G>A

13 papers

NM_000125.4

p.G521R

c.1561G>C

1 paper

NM_000125.4

p.G521fs

c.1561_1562fs

5 papers

NM_000125.4

p.G521A

c.1562G>C

3 papers

NM_000125.4

p.G521V

c.1562G>T

1 paper

NM_000125.4

p.S518Splc

c.1554-5T>C

1 paper

NM_000125.4

p.M522fs

c.1564_1565fs