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.I389_V392del0

c.1167_1175del9

Surrounding Variants

1 paper

NM_000125.4

p.I389L

c.1165A>C

2 papers

NM_000125.4

p.M388I

c.1164G>A

3 papers

NM_000125.4

p.M388I

c.1164G>C

2 papers

NM_000125.4

p.M388I

c.1164G>T

4 papers

NM_000125.4

p.M388L

c.1162A>C

1 paper

NM_000125.4

p.M388V

c.1162A>G

4 papers

NM_000125.4

p.M388L

c.1162A>T

1 paper

NM_000125.4

p.G390R

c.1168G>C

2 papers

NM_000125.4

p.G390D

c.1169G>A

1 paper

NM_000125.4

p.M388_L391delFs

c.1162_1172del11

1 paper

NM_000125.4

p.L387Q

c.1160T>A

1 paper

NM_000125.4

p.L387P

c.1160T>C