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

3 papers

NM_000125.4

p.Y537*

c.1611T>A

Surrounding Variants

1 paper

NM_000125.4

p.Y537Y

c.1611T>C

3 papers

NM_000125.4

p.Y537*

c.1611T>G

439 papers

NM_000125.4

p.Y537S

c.1610A>C

204 papers

NM_000125.4

p.Y537C

c.1610A>G

12 papers

NM_000125.4

p.Y537F

c.1610A>T

1 paper

NM_000125.4

p.Y537delins

c.1610_1611delinsCA

1 paper

NM_000125.4

p.Y537delins

c.1610_1611delinsCC

15 papers

NM_000125.4

p.D538N

c.1612G>A

1 paper

NM_000125.4

p.D538delFs

c.1613delA

15 papers

NM_000125.4

p.D538A

c.1613A>C

428 papers

NM_000125.4

p.D538G

c.1613A>G

6 papers

NM_000125.4

p.D538V

c.1613A>T