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.G198G

c.594A>G

Surrounding Variants

1 paper

NM_000125.4

p.G198E

c.593G>A

1 paper

NM_000125.4

p.V199I

c.595G>A

1 paper

NM_000125.4

p.G198R

c.592G>C

1 paper

NM_000125.4

p.V199D

c.596T>A

1 paper

NM_000125.4

p.G198delFs

c.592delG

1 paper

NM_000125.4

p.W200R

c.598T>A

1 paper

NM_000125.4

p.W200R

c.598T>C

1 paper

NM_000125.4

p.W200G

c.598T>G

1 paper

NM_000125.4

p.W200L

c.599G>T

1 paper

NM_000125.4

p.W200_S201delFs

c.600_601delGT

2 papers

NM_000125.4

p.W200C

c.600G>C

2 papers

NM_000125.4

p.W200C

c.600G>T