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.H524Q

c.1572T>A

Surrounding Variants

1 paper

NM_000125.4

p.H524Q

c.1572T>G

11 papers

NM_000125.4

p.H524L

c.1571A>T

1 paper

NM_000125.4

p.L525M

c.1573C>A

1 paper

NM_000125.4

p.H524N

c.1570C>A

3 papers

NM_000125.4

p.H524Y

c.1570C>T

3 papers

NM_000125.4

p.L525L

c.1575G>A

4 papers

NM_000125.4

p.E523A

c.1568A>C

2 papers

NM_000125.4

p.E523V

c.1568A>T

1 paper

NM_000125.4

p.Y526H

c.1576T>C

1 paper

NM_000125.4

p.Y526C

c.1577A>G

4 papers

NM_000125.4

p.E523Q

c.1567G>C

1 paper

NM_000125.4

p.M522I

c.1566G>A