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.Q159R

c.476A>G

Surrounding Variants

1 paper

NM_000125.4

p.Q159Q

c.477G>A

1 paper

NM_000125.4

p.G160S

c.478G>A

16 papers

NM_000125.4

p.G160C

c.478G>T

3 papers

NM_000125.4

p.R158H

c.473G>A

1 paper

NM_000125.4

p.G160D

c.479G>A

2 papers

NM_000125.4

p.R158P

c.473G>C

2 papers

NM_000125.4

p.R158L

c.473G>T

1 paper

NM_000125.4

p.R158G

c.472C>G

4 papers

NM_000125.4

p.R158C

c.472C>T

1 paper

NM_000125.4

p.G161S

c.481G>A

1 paper

NM_000125.4

p.R157Q

c.470G>A

12 papers

NM_000125.4

p.R157*

c.469C>T