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.R503P

c.1508G>C

Surrounding Variants

2 papers

NM_000125.4

p.R503L

c.1508G>T

5 papers

NM_000125.4

p.R503W

c.1507C>T

1 paper

NM_000125.4

p.Q502R

c.1505A>G

1 paper

NM_000125.4

p.L504Q

c.1511T>A

1 paper

NM_000125.4

p.L504P

c.1511T>C

1 paper

NM_000125.4

p.L504L

c.1512G>C

1 paper

NM_000125.4

p.H501Q

c.1503C>A

1 paper

NM_000125.4

p.H501Q

c.1503C>G

2 papers

NM_000125.4

p.Q502del1

c.1504_1505delCAG

1 paper

NM_000125.4

p.A505P

c.1513G>C

1 paper

NM_000125.4

p.A505V

c.1514C>T

1 paper

NM_000125.4

p.Q506*

c.1516C>T