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

7 papers

NM_000125.4

p.L370F

c.1110G>T

Surrounding Variants

7 papers

NM_000125.4

p.L370F

c.1110G>C

3 papers

NM_000125.4

p.T371S

c.1111A>T

3 papers

NM_000125.4

p.T371S

c.1112C>G

1 paper

NM_000125.4

p.T371I

c.1112C>T

1 paper

NM_000125.4

p.L370fs

c.1108_1109fs

1 paper

NM_000125.4

p.T371T

c.1113C>T

2 papers

NM_000125.4

p.L372I

c.1114C>A

1 paper

NM_000125.4

p.L372_H373ins4

c.1114_1118ins12

1 paper

NM_000125.4

p.L372F

c.1114C>T

1 paper

NM_000125.4

p.D369Y

c.1105G>T

4 papers

NM_000125.4

p.L372R

c.1115T>G

1 paper

NM_000125.4

p.L372L

c.1116C>G