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.S395Y

c.1184C>A

Surrounding Variants

1 paper

NM_000125.4

p.S395F

c.1184C>T

1 paper

NM_000125.4

p.S395A

c.1183T>G

7 papers

NM_000125.4

p.M396V

c.1186A>G

1 paper

NM_000125.4

p.R394R

c.1182C>T

13 papers

NM_000125.4

p.R394H

c.1181G>A

3 papers

NM_000125.4

p.R394P

c.1181G>C

2 papers

NM_000125.4

p.R394L

c.1181G>T

1 paper

NM_000125.4

p.E397delFs

c.1189delG

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.E397_F404del0

c.1189_1212del24

1 paper

NM_000125.4

p.E397*

c.1189G>T