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.Q498*

c.1492C>T

Surrounding Variants

2 papers

NM_000125.4

p.Q498R

c.1493A>G

1 paper

NM_000125.4

p.L497R

c.1490T>G

4 papers

NM_000125.4

p.Q500del1

c.1498_1499delCAG

1 paper

NM_000125.4

p.L497_Q498del2

c.1489_1493del6

1 paper

NM_000125.4

p.T496I

c.1487C>T

3 papers

NM_000125.4

p.Q500insFs

c.1499_1500insA

3 papers

NM_000125.4

p.Q500*

c.1498C>T

1 paper

NM_000125.4

p.Q500R

c.1499A>G

1 paper

NM_000125.4

p.Q500H

c.1500G>C

1 paper

NM_000125.4

p.Q500H

c.1500G>T

1 paper

NM_000125.4

p.H501Q

c.1503C>A

1 paper

NM_000125.4

p.H501Q

c.1503C>G