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.D374N

c.1120G>A

Surrounding Variants

2 papers

NM_000125.4

p.H373R

c.1118A>G

1 paper

NM_000125.4

p.H373L

c.1118A>T

2 papers

NM_000125.4

p.H373N

c.1117C>A

1 paper

NM_000125.4

p.Q375K

c.1123C>A

1 paper

NM_000125.4

p.Q375E

c.1123C>G

1 paper

NM_000125.4

p.Q375*

c.1123C>T

2 papers

NM_000125.4

p.Q375L

c.1124A>T

1 paper

NM_000125.4

p.L372L

c.1116C>G

1 paper

NM_000125.4

p.L372L

c.1116C>T

10 papers

NM_000125.4

p.Q375H

c.1125G>C

11 papers

NM_000125.4

p.Q375H

c.1125G>T

4 papers

NM_000125.4

p.L372R

c.1115T>G