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.S578S

c.1734C>T

Surrounding Variants

17 papers

NM_000125.4

p.H577R

c.1730A>G

1 paper

NM_000125.4

p.Q580L

c.1739A>T

5 papers

NM_000125.4

p.S576L

c.1727C>T

1 paper

NM_000125.4

p.H577_Q580del0

c.1731_1739del9

1 paper

NM_000125.4

p.K581T

c.1742A>C

1 paper

NM_000125.4

p.S576P

c.1726T>C

2 papers

NM_000125.4

p.S575S

c.1725A>C

1 paper

NM_000125.4

p.K581N

c.1743G>C

1 paper

NM_000125.4

p.K581N

c.1743G>T

1 paper

NM_000125.4

p.Y583delFs

c.1747delT

1 paper

NM_000125.4

p.S575A

c.1723T>G

2 papers

NM_000125.4

p.T574T

c.1722T>C