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.V392F

c.1174G>T

Surrounding Variants

29 papers

NM_000125.4

p.V392I

c.1174G>A

1 paper

NM_000125.4

p.V392_A405delFs

c.1175_1214del40

1 paper

NM_000125.4

p.V392V

c.1176C>G

1 paper

NM_000125.4

p.L391H

c.1172T>A

3 papers

NM_000125.4

p.L391V

c.1171C>G

1 paper

NM_000125.4

p.L391F

c.1171C>T

1 paper

NM_000125.4

p.W393R

c.1177T>A

1 paper

NM_000125.4

p.W393*

c.1178G>A

2 papers

NM_000125.4

p.G390D

c.1169G>A

3 papers

NM_000125.4

p.R394S

c.1180C>A

7 papers

NM_000125.4

p.R394C

c.1180C>T

1 paper

NM_000125.4

p.G390R

c.1168G>C