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.I298N

c.893T>A

Surrounding Variants

1 paper

NM_000125.4

p.K299delFs

c.895_896delAA

1 paper

NM_000125.4

p.K299E

c.895A>G

17 papers

NM_000125.4

p.K299R

c.896A>G

1 paper

NM_000125.4

p.M297R

c.890T>G

3 papers

NM_000125.4

p.R300C

c.898C>T

4 papers

NM_000125.4

p.R300H

c.899G>A

1 paper

NM_000125.4

p.R300L

c.899G>T

3 papers

NM_000125.4

p.L296P

c.887T>C

1 paper

NM_000125.4

p.L296V

c.886C>G

1 paper

NM_000125.4

p.R300R

c.900C>T

1 paper

NM_000125.4

p.P295P

c.885G>A

1 paper

NM_000125.4

p.S301Y

c.902C>A