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.S212delFs

c.634delA

Surrounding Variants

1 paper

NM_000125.4

p.R211S

c.633A>C

1 paper

NM_000125.4

p.S212C

c.634A>T

1 paper

NM_000125.4

p.I213_Q214insT

c.637_641ins3

1 paper

NM_000125.4

p.I213L

c.637A>C

1 paper

NM_000125.4

p.F209L

c.625T>C

1 paper

NM_000125.4

p.F208L

c.624C>A

1 paper

NM_000125.4

p.Q214K

c.640C>A

1 paper

NM_000125.4

p.F208L

c.624C>G

1 paper

NM_000125.4

p.F208F

c.624C>T

1 paper

NM_000125.4

p.Q214H

c.642A>C

1 paper

NM_000125.4

p.Q214Q

c.642A>G

1 paper

NM_000125.4

p.Q214H

c.642A>T