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.L349M

c.1045C>A

Surrounding Variants

1 paper

NM_000125.4

p.L349V

c.1045C>G

1 paper

NM_000125.4

p.N348N

c.1044C>T

1 paper

NM_000125.4

p.L349Q

c.1046T>A

1 paper

NM_000125.4

p.N348S

c.1043A>G

1 paper

NM_000125.4

p.N348Y

c.1042A>T

1 paper

NM_000125.4

p.A350T

c.1048G>A

1 paper

NM_000125.4

p.A350insFs

c.1048_1049ins5

1 paper

NM_000125.4

p.T347_N348delins

c.1041_1044delinsT

2 papers

NM_000125.4

p.T347N

c.1040C>A

1 paper

NM_000125.4

p.T347I

c.1040C>T

1 paper

NM_000125.4

p.T347A

c.1039A>G

3 papers

NM_000125.4

p.D351N

c.1051G>A