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

105 papers

NM_000125.4

p.S463P

c.1387T>C

Surrounding Variants

1 paper

NM_000125.4

p.S463A

c.1387T>G

2 papers

NM_000125.4

p.S463F

c.1388C>T

1 paper

NM_000125.4

p.S464G

c.1390A>G

1 paper

NM_000125.4

p.L462M

c.1384C>A

1 paper

NM_000125.4

p.S464R

c.1392C>A

1 paper

NM_000125.4

p.T465S

c.1393A>T

1 paper

NM_000125.4

p.L466delFs

c.1396delC

1 paper

NM_000125.4

p.F461I

c.1381T>A

1 paper

NM_000125.4

p.F461L

c.1381T>C

8 papers

NM_000125.4

p.F461V

c.1381T>G

1 paper

NM_000125.4

p.T465N

c.1394C>A

1 paper

NM_000125.4

p.T465S

c.1394C>G