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.S329C

c.986C>G

Surrounding Variants

3 papers

NM_000125.4

p.S329Y

c.986C>A

2 papers

NM_000125.4

p.S329F

c.986C>T

1 paper

NM_000125.4

p.S329S

c.987C>T

1 paper

NM_000125.4

p.S329T

c.985T>A

2 papers

NM_000125.4

p.S329A

c.985T>G

3 papers

NM_000125.4

p.E330K

c.988G>A

2 papers

NM_000125.4

p.E330Q

c.988G>C

1 paper

NM_000125.4

p.Y328_S329del0

c.982_987del6

1 paper

NM_000125.4

p.L327F

c.979C>T

1 paper

NM_000125.4

p.I326fs

c.976_977fs

2 papers

NM_000125.4

p.I326V

c.976A>G

2 papers

NM_000125.4

p.I326fs

c.976_977fs