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

1–12 of 1750 variants

439 papers

NM_000125.4

p.Y537S

c.1610A>C

428 papers

NM_000125.4

p.D538G

c.1613A>G

243 papers

NM_000125.4

p.Y537N

c.1609T>A

228 papers

NM_000125.4

p.E380Q

c.1138G>C

204 papers

NM_000125.4

p.Y537C

c.1610A>G

105 papers

NM_000125.4

p.S463P

c.1387T>C

91 papers

NM_000125.4

p.L536R

c.1607T>G

84 papers

NM_000125.4

p.L536H

c.1607T>A

80 papers

NM_000125.4

p.E542K

c.1624G>A

77 papers

NM_000125.4

p.L536P

c.1607T>C

73 papers

NM_000125.4

p.K303R

c.908A>G

52 papers

NM_000125.4

p.R151Splc

c.453-397T>C