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.A166delFs

c.497_498delCC

Surrounding Variants

1 paper

NM_000125.4

p.L165F

c.495G>C

1 paper

NM_000125.4

p.L165F

c.495G>T

1 paper

NM_000125.4

p.L165S

c.494T>C

1 paper

NM_000125.4

p.S167G

c.499A>G

1 paper

NM_000125.4

p.R162R

c.486A>G

1 paper

NM_000125.4

p.D170H

c.508G>C

1 paper

NM_000125.4

p.D170insFs

c.509_510insA

1 paper

NM_000125.4

p.D170_K171ins9

c.508_512ins27

1 paper

NM_000125.4

p.K171_A179del9

c.511_536del27

1 paper

NM_000125.4

p.K171_S173del3

c.511_518del9

1 paper

NM_000125.4

p.K171_M176del6

c.511_527del18

1 paper

NM_000125.4

p.K171_T182del12

c.511_545del36