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.M490R

c.1469T>G

Surrounding Variants

1 paper

NM_000125.4

p.M490V

c.1468A>G

1 paper

NM_000125.4

p.A491T

c.1471G>A

1 paper

NM_000125.4

p.L489V

c.1465C>G

1 paper

NM_000125.4

p.K492*

c.1474A>T

1 paper

NM_000125.4

p.K492R

c.1475A>G

1 paper

NM_000125.4

p.H488Y

c.1462C>T

1 paper

NM_000125.4

p.K492K

c.1476G>A

1 paper

NM_000125.4

p.L486F

c.1458G>C

1 paper

NM_000125.4

p.L486F

c.1458G>T

1 paper

NM_000125.4

p.G494D

c.1481G>A

1 paper

NM_000125.4

p.G494V

c.1481G>T

3 papers

NM_000125.4

p.L486L

c.1456T>C