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.E380insFs

c.1140dupA

Surrounding Variants

6 papers

NM_000125.4

p.E380K

c.1138G>A

228 papers

NM_000125.4

p.E380Q

c.1138G>C

1 paper

NM_000125.4

p.E380*

c.1138G>T

2 papers

NM_000125.4

p.E380A

c.1139A>C

1 paper

NM_000125.4

p.E380V

c.1139A>T

1 paper

NM_000125.4

p.E380D

c.1140A>C

1 paper

NM_000125.4

p.E380D

c.1140A>T

1 paper

NM_000125.4

p.L379P

c.1136T>C

1 paper

NM_000125.4

p.L379R

c.1136T>G

2 papers

NM_000125.4

p.L379I

c.1135C>A

3 papers

NM_000125.4

p.L379insFs

c.1135_1136insA

3 papers

NM_000125.4

p.L379V

c.1135C>G