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.L536delins

c.1607_1608delinsAT

Surrounding Variants

84 papers

NM_000125.4

p.L536H

c.1607T>A

77 papers

NM_000125.4

p.L536P

c.1607T>C

91 papers

NM_000125.4

p.L536R

c.1607T>G

4 papers

NM_000125.4

p.L536delins

c.1607_1608delinsAG

1 paper

NM_000125.4

p.L536_Y537delins

c.1607_1610delinsCCTC

2 papers

NM_000125.4

p.L536I

c.1606C>A

1 paper

NM_000125.4

p.L536L

c.1608C>A

1 paper

NM_000125.4

p.L536V

c.1606C>G

1 paper

NM_000125.4

p.L536L

c.1608C>G

4 papers

NM_000125.4

p.L536F

c.1606C>T

1 paper

NM_000125.4

p.L536L

c.1608C>T

4 papers

NM_000125.4

p.L536_Y537delins

c.1608_1609delinsTA