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.R269R

c.807C>A

Surrounding Variants

1 paper

NM_000125.4

p.R269R

c.807C>T

5 papers

NM_000125.4

p.R269H

c.806G>A

1 paper

NM_000125.4

p.Q270R

c.809A>G

31 papers

NM_000125.4

p.R269C

c.805C>T

NM_001291230.2

p.R271C

c.811C>T

NM_001328100.2

p.R96C

c.286C>T

1 paper

NM_000125.4

p.Q270Q

c.810G>A

1 paper

NM_000125.4

p.K268N

c.804G>C

1 paper

NM_000125.4

p.Q270H

c.810G>C

1 paper

NM_000125.4

p.K268N

c.804G>T

2 papers

NM_000125.4

p.K268R

c.803A>G

1 paper

NM_000125.4

p.R271_G274del0

c.812_820del9

1 paper

NM_000125.4

p.H267Q

c.801C>A

1 paper

NM_000125.4

p.H267Q

c.801C>G