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.L402Q

c.1205T>A

Surrounding Variants

2 papers

NM_000125.4

p.L403V

c.1207C>G

1 paper

NM_000125.4

p.L403P

c.1208T>C

1 paper

NM_000125.4

p.L403delFs

c.1209delG

2 papers

NM_000125.4

p.F404I

c.1210T>A

6 papers

NM_000125.4

p.F404L

c.1210T>C

3 papers

NM_000125.4

p.F404V

c.1210T>G

1 paper

NM_000125.4

p.G400E

c.1199G>A

25 papers

NM_000125.4

p.G400V

c.1199G>T

6 papers

NM_000125.4

p.F404L

c.1212T>A

6 papers

NM_000125.4

p.F404L

c.1212T>G

1 paper

NM_000125.4

p.A405G

c.1214C>G

1 paper

NM_000125.4

p.A405V

c.1214C>T