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

2 papers

NM_000125.4

p.S154P

c.460T>C

Surrounding Variants

2 papers

NM_000125.4

p.S154A

c.460T>G

2 papers

NM_000125.4

p.S154L

c.461C>T

1 paper

NM_000125.4

p.N153H

c.457A>C

6 papers

NM_000125.4

p.D155N

c.463G>A

1 paper

NM_000125.4

p.D155delFs

c.464delA

1 paper

NM_000125.4

p.D155V

c.464A>T

2 papers

NM_000125.4

p.P152L

c.455C>T

1 paper

NM_000125.4

p.D155E

c.465T>A

1 paper

NM_000125.4

p.D155E

c.465T>G

1 paper

NM_000125.4

p.N156D

c.466A>G

3 papers

NM_000125.4

p.P152A

c.454C>G

1 paper

NM_000125.4

p.P152S

c.454C>T