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.A593D

c.1778C>A

Surrounding Variants

2 papers

NM_000125.4

p.P592R

c.1775C>G

1 paper

NM_000125.4

p.T594R

c.1781C>G

6 papers

NM_000125.4

p.T594M

c.1781C>T

1 paper

NM_000125.4

p.P592L

c.1775C>T

1 paper

NM_000125.4

p.P592S

c.1774C>T

13 papers

NM_000125.4

p.T594T

c.1782G>A

1 paper

NM_000125.4

p.F591L

c.1773C>A

1 paper

NM_000125.4

p.F591L

c.1773C>G

1 paper

NM_000125.4

p.V595I

c.1783G>A

1 paper

NM_000125.4

p.V595F

c.1783G>T

1 paper

NM_000125.4

p.V595A

c.1784T>C

1 paper

NM_000125.4

p.V595G

c.1784T>G