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

4 papers

NM_000125.4

p.E542D

c.1626G>C

Surrounding Variants

4 papers

NM_000125.4

p.E542D

c.1626G>T

12 papers

NM_000125.4

p.E542A

c.1625A>C

1 paper

NM_000125.4

p.M543L

c.1627A>C

7 papers

NM_000125.4

p.E542G

c.1625A>G

4 papers

NM_000125.4

p.M543V

c.1627A>G

3 papers

NM_000125.4

p.M543L

c.1627A>T

1 paper

NM_000125.4

p.E542V

c.1625A>T

1 paper

NM_000125.4

p.M543fs

c.1627_1628fs

80 papers

NM_000125.4

p.E542K

c.1624G>A

6 papers

NM_000125.4

p.E542Q

c.1624G>C

2 papers

NM_000125.4

p.E542*

c.1624G>T

2 papers

NM_000125.4

p.M543K

c.1628T>A