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

3 papers

NM_000125.4

p.D273N

c.817G>A

Surrounding Variants

1 paper

NM_000125.4

p.D273H

c.817G>C

1 paper

NM_000125.4

p.D273Y

c.817G>T

1 paper

NM_000125.4

p.D273insFs

c.817dupG

1 paper

NM_000125.4

p.D272V

c.815A>T

2 papers

NM_000125.4

p.D273D

c.819T>C

2 papers

NM_000125.4

p.G274R

c.820G>A

2 papers

NM_000125.4

p.G274R

c.820G>C

1 paper

NM_000125.4

p.D272fs

c.814_815fs

1 paper

NM_000125.4

p.R271_G274del0

c.812_820del9

1 paper

NM_000125.4

p.Q270Q

c.810G>A

1 paper

NM_000125.4

p.Q270H

c.810G>C

1 paper

NM_000125.4

p.Q270R

c.809A>G