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.D473E

c.1419C>A

Surrounding Variants

1 paper

NM_000125.4

p.D473E

c.1419C>G

1 paper

NM_000125.4

p.H474Y

c.1420C>T

1 paper

NM_000125.4

p.H474P

c.1421A>C

1 paper

NM_000125.4

p.K472N

c.1416G>C

1 paper

NM_000125.4

p.K472N

c.1416G>T

1 paper

NM_000125.4

p.I475S

c.1424T>G

2 papers

NM_000125.4

p.E471D

c.1413G>C

2 papers

NM_000125.4

p.E471D

c.1413G>T

2 papers

NM_000125.4

p.E471A

c.1412A>C

2 papers

NM_000125.4

p.E471V

c.1412A>T

1 paper

NM_000125.4

p.H476N

c.1426C>A

1 paper

NM_000125.4

p.H476Y

c.1426C>T