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.V187V

c.561G>A

Surrounding Variants

2 papers

NM_000125.4

p.V187M

c.559G>A

1 paper

NM_000125.4

p.N189Y

c.565A>T

4 papers

NM_000125.4

p.N189I

c.566A>T

1 paper

NM_000125.4

p.C185Y

c.554G>A

1 paper

NM_000125.4

p.D190Y

c.568G>T

4 papers

NM_000125.4

p.D190V

c.569A>T

1 paper

NM_000125.4

p.Y184C

c.551A>G

2 papers

NM_000125.4

p.Y191H

c.571T>C

1 paper

NM_000125.4

p.Y191ins1

c.572_573insAAA

1 paper

NM_000125.4

p.Y191Y

c.573T>C

2 papers

NM_000125.4

p.R183H

c.548G>A

1 paper

NM_000125.4

p.A192T

c.574G>A