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.Y583Y

c.1749C>T

Surrounding Variants

1 paper

NM_000125.4

p.I584V

c.1750A>G

1 paper

NM_000125.4

p.T585fs

c.1753_1754fs

1 paper

NM_000125.4

p.T585P

c.1753A>C

1 paper

NM_000125.4

p.T585S

c.1753A>T

1 paper

NM_000125.4

p.Y583delFs

c.1747delT

3 papers

NM_000125.4

p.T585M

c.1754C>T

2 papers

NM_000125.4

p.T585delFs

c.1755delG

3 papers

NM_000125.4

p.T585T

c.1755G>A

1 paper

NM_000125.4

p.K581N

c.1743G>C

1 paper

NM_000125.4

p.K581N

c.1743G>T

1 paper

NM_000125.4

p.K581T

c.1742A>C

3 papers

NM_000125.4

p.G586W

c.1756G>T