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

4 papers

NM_000125.4

p.L536_Y537delins

c.1608_1609delinsTA

Surrounding Variants

1 paper

NM_000125.4

p.L536L

c.1608C>A

1 paper

NM_000125.4

p.L536L

c.1608C>G

1 paper

NM_000125.4

p.L536L

c.1608C>T

243 papers

NM_000125.4

p.Y537N

c.1609T>A

84 papers

NM_000125.4

p.L536H

c.1607T>A

77 papers

NM_000125.4

p.L536P

c.1607T>C

12 papers

NM_000125.4

p.Y537H

c.1609T>C

91 papers

NM_000125.4

p.L536R

c.1607T>G

27 papers

NM_000125.4

p.Y537D

c.1609T>G

1 paper

NM_000125.4

p.Y537delins

c.1609_1610delinsAG

1 paper

NM_000125.4

p.Y537delins

c.1609_1610delinsCC

1 paper

NM_000125.4

p.Y537delins

c.1609_1610delinsGG