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.G557R

c.1669G>C

Surrounding Variants

2 papers

NM_000125.4

p.G557R

c.1669G>A

2 papers

NM_000125.4

p.G557W

c.1669G>T

1 paper

NM_000125.4

p.G557E

c.1670G>A

1 paper

NM_000125.4

p.A558T

c.1672G>A

1 paper

NM_000125.4

p.A558fs

c.1672_1673fs

3 papers

NM_000125.4

p.R555R

c.1665T>C

11 papers

NM_000125.4

p.R555H

c.1664G>A

2 papers

NM_000125.4

p.R555S

c.1663C>A

1 paper

NM_000125.4

p.R555insFs

c.1663_1664insT

6 papers

NM_000125.4

p.R555C

c.1663C>T

5 papers

NM_000125.4

p.S559A

c.1675T>G

1 paper

NM_000125.4

p.S559F

c.1676C>T