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.E471insFs

c.1411_1412insT

Surrounding Variants

2 papers

NM_000125.4

p.E471A

c.1412A>C

2 papers

NM_000125.4

p.E471V

c.1412A>T

2 papers

NM_000125.4

p.E471D

c.1413G>C

2 papers

NM_000125.4

p.E471D

c.1413G>T

2 papers

NM_000125.4

p.E470K

c.1408G>A

1 paper

NM_000125.4

p.K472N

c.1416G>C

1 paper

NM_000125.4

p.K472N

c.1416G>T

1 paper

NM_000125.4

p.L469P

c.1406T>C

15 papers

NM_000125.4

p.L469V

c.1405C>G

1 paper

NM_000125.4

p.D473E

c.1419C>A

1 paper

NM_000125.4

p.D473E

c.1419C>G

2 papers

NM_000125.4

p.S468F

c.1403C>T