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

3 papers

NM_000125.4

p.G204S

c.610G>A

Surrounding Variants

2 papers

NM_000125.4

p.G204R

c.610G>C

1 paper

NM_000125.4

p.E203E

c.609G>A

3 papers

NM_000125.4

p.G204A

c.611G>C

5 papers

NM_000125.4

p.E203A

c.608A>C

4 papers

NM_000125.4

p.E203G

c.608A>G

1 paper

NM_000125.4

p.E203V

c.608A>T

1 paper

NM_000125.4

p.E203K

c.607G>A

1 paper

NM_000125.4

p.C202*

c.606T>A

1 paper

NM_000125.4

p.C202W

c.606T>G

3 papers

NM_000125.4

p.K206R

c.617A>G

2 papers

NM_000125.4

p.S201F

c.602C>T

2 papers

NM_000125.4

p.K206K

c.618G>A