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.R263R

c.787A>C

Surrounding Variants

1 paper

NM_000125.4

p.R263G

c.787A>G

1 paper

NM_000125.4

p.R263K

c.788G>A

1 paper

NM_000125.4

p.R263S

c.789A>C

1 paper

NM_000125.4

p.G262E

c.785G>A

1 paper

NM_000125.4

p.G262V

c.785G>T

2 papers

NM_000125.4

p.M264fs

c.790_791fs

1 paper

NM_000125.4

p.M264I

c.792G>A

1 paper

NM_000125.4

p.M264I

c.792G>C

1 paper

NM_000125.4

p.G261V

c.782G>T

1 paper

NM_000125.4

p.M264I

c.792G>T

2 papers

NM_000125.4

p.G261R

c.781G>A

1 paper

NM_000125.4

p.G261R

c.781G>C