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.M176V

c.526A>G

Surrounding Variants

1 paper

NM_000125.4

p.A175D

c.524C>A

2 papers

NM_000125.4

p.A175V

c.524C>T

1 paper

NM_000125.4

p.E177Q

c.529G>C

1 paper

NM_000125.4

p.E177V

c.530A>T

1 paper

NM_000125.4

p.S178Y

c.533C>A

1 paper

NM_000125.4

p.S173R

c.519T>A

1 paper

NM_000125.4

p.S173R

c.519T>G

2 papers

NM_000125.4

p.S173R

c.517A>C

1 paper

NM_000125.4

p.S173G

c.517A>G

1 paper

NM_000125.4

p.G172E

c.515G>A

2 papers

NM_000125.4

p.G172V

c.515G>T

1 paper

NM_000125.4

p.E181del1

c.541_543delGAG