Varaico: Literature-Extracted Genetic Variants

ESRRA

124 papers

RefSeq Summary

The protein encoded by this gene is a nuclear receptor that is most closely related to the estrogen receptor. This protein acts as a site-specific transcription factor and interacts with members of th...

Pfam Domains

zf-C4aa 77–146UCSCDouble treble clef zinc finger, C4 type

Hormone_recepaa 224–404UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

estrogen related receptor alpha

HGNC Previous Symbol

ESRL1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004451.5

p.M258V

c.772A>G

Surrounding Variants

1 paper

NM_004451.5

p.S259P

c.775T>C

1 paper

NM_004451.5

p.V260A

c.779T>C

1 paper

NM_004451.5

p.Q262E

c.784C>G

1 paper

NM_004451.5

p.S251L

c.752C>T

1 paper

NM_004451.5

p.L271L

c.811C>T

1 paper

NM_004451.5

p.P279T

c.835C>A

1 paper

NM_004451.5

p.D282N

c.844G>A

1 paper

NM_004451.5

p.G301D

c.902G>A

1 paper

NM_004451.5

p.C229F

c.686G>T

1 paper

NM_004451.5

p.A226V

c.677C>T

1 paper

NM_004451.5

p.H221N

c.661C>A

1 paper

NM_004451.5

p.D219N

c.655G>A