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

2 papers

NM_000125.4

p.E279K

c.835G>A

Surrounding Variants

1 paper

NM_000125.4

p.E279V

c.836A>T

5 papers

NM_000125.4

p.G278V

c.833G>T

1 paper

NM_000125.4

p.R277M

c.830G>T

1 paper

NM_000125.4

p.R277W

c.829A>T

1 paper

NM_000125.4

p.G281R

c.841G>A

1 paper

NM_000125.4

p.G281A

c.842G>C

2 papers

NM_000125.4

p.G281delins

c.842_843delinsAC

1 paper

NM_000125.4

p.G276D

c.827G>A

1 paper

NM_000125.4

p.G276V

c.827G>T

1 paper

NM_000125.4

p.G276C

c.826G>T

1 paper

NM_000125.4

p.S282P

c.844T>C

2 papers

NM_000125.4

p.S282A

c.844T>G