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.C530W

c.1590C>G

Surrounding Variants

1 paper

NM_000125.4

p.K531Q

c.1591A>C

11 papers

NM_000125.4

p.K531E

c.1591A>G

13 papers

NM_000125.4

p.C530S

c.1589G>C

1 paper

NM_000125.4

p.K531R

c.1592A>G

13 papers

NM_000125.4

p.C530S

c.1588T>A

1 paper

NM_000125.4

p.C530G

c.1588T>G

2 papers

NM_000125.4

p.K531N

c.1593G>C

1 paper

NM_000125.4

p.K529N

c.1587G>C

2 papers

NM_000125.4

p.K531N

c.1593G>T

1 paper

NM_000125.4

p.K529N

c.1587G>T

5 papers

NM_000125.4

p.N532D

c.1594A>G

1 paper

NM_000125.4

p.K529R

c.1586A>G