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.F367F

c.1101T>C

Surrounding Variants

1 paper

NM_000125.4

p.V368L

c.1102G>C

1 paper

NM_000125.4

p.V368L

c.1102G>T

1 paper

NM_000125.4

p.F367S

c.1100T>C

3 papers

NM_000125.4

p.F367C

c.1100T>G

1 paper

NM_000125.4

p.V368E

c.1103T>A

1 paper

NM_000125.4

p.F367V

c.1099T>G

1 paper

NM_000125.4

p.G366G

c.1098C>T

1 paper

NM_000125.4

p.F367delFs

c.1100delT

1 paper

NM_000125.4

p.D369Y

c.1105G>T

1 paper

NM_000125.4

p.G366Splc

c.1097-1G>T

1 paper

NM_000125.4

p.L370fs

c.1108_1109fs

1 paper

NM_000125.4

p.G366Splc

c.1097-4T>G