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.W383R

c.1147T>A

Surrounding Variants

2 papers

NM_000125.4

p.W383R

c.1147T>C

4 papers

NM_000125.4

p.W383*

c.1148G>A

4 papers

NM_000125.4

p.W383*

c.1149G>A

2 papers

NM_000125.4

p.W383C

c.1149G>T

2 papers

NM_000125.4

p.L384V

c.1150C>G

1 paper

NM_000125.4

p.A382T

c.1144G>A

1 paper

NM_000125.4

p.L384P

c.1151T>C

1 paper

NM_000125.4

p.C381Y

c.1142G>A

12 papers

NM_000125.4

p.C381S

c.1142G>C

1 paper

NM_000125.4

p.E385K

c.1153G>A

5 papers

NM_000125.4

p.E385Q

c.1153G>C

12 papers

NM_000125.4

p.C381S

c.1141T>A