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

2 papers

NM_000125.4

p.P324A

c.970C>G

Surrounding Variants

2 papers

NM_000125.4

p.E323A

c.968A>C

1 paper

NM_000125.4

p.P325fs

c.973_974fs

1 paper

NM_000125.4

p.P325A

c.973C>G

1 paper

NM_000125.4

p.P325fs

c.973_974fs

1 paper

NM_000125.4

p.P325Q

c.974C>A

2 papers

NM_000125.4

p.P325L

c.974C>T

3 papers

NM_000125.4

p.P325delFs

c.975delG

11 papers

NM_000125.4

p.P325P

c.975G>C

1 paper

NM_000125.4

p.I326fs

c.976_977fs

2 papers

NM_000125.4

p.I326V

c.976A>G

2 papers

NM_000125.4

p.I326fs

c.976_977fs

1 paper

NM_000125.4

p.D321E

c.963T>A