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.L408insFs

c.1223_1224insA

Surrounding Variants

2 papers

NM_000125.4

p.L408_L409insFs

c.1224_1225insG

1 paper

NM_000125.4

p.L408_L409insFs

c.1224_1225insA

1 paper

NM_000125.4

p.L408V

c.1222T>G

1 paper

NM_000125.4

p.N407_L408insFs

c.1221_1222insC

1 paper

NM_000125.4

p.N407I

c.1220A>T

2 papers

NM_000125.4

p.N407D

c.1219A>G

1 paper

NM_000125.4

p.N407Y

c.1219A>T

5 papers

NM_000125.4

p.L409L

c.1227C>T

2 papers

NM_000125.4

p.P406L

c.1217C>T

1 paper

NM_000125.4

p.L410W

c.1229T>G

1 paper

NM_000125.4

p.P406insFs

c.1216_1217insAA

1 paper

NM_000125.4

p.P406A

c.1216C>G