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

5 papers

NM_000125.4

p.A551V

c.1652C>T

Surrounding Variants

1 paper

NM_000125.4

p.H550P

c.1649A>C

1 paper

NM_000125.4

p.T553insFs

c.1657_1658insC

1 paper

NM_000125.4

p.T553I

c.1658C>T

4 papers

NM_000125.4

p.L549P

c.1646T>C

1 paper

NM_000125.4

p.L549R

c.1646T>G

1 paper

NM_000125.4

p.L549V

c.1645C>G

1 paper

NM_000125.4

p.T553T

c.1659T>C

10 papers

NM_000125.4

p.S554fs

c.1660_1661fs

3 papers

NM_000125.4

p.S554N

c.1661G>A

2 papers

NM_000125.4

p.R548H

c.1643G>A

1 paper

NM_000125.4

p.R548P

c.1643G>C

1 paper

NM_000125.4

p.S554T

c.1661G>C