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

5 papers

NM_004451.5

p.R188Q

c.563G>A

Surrounding Variants

1 paper

NM_004451.5

p.L181P

c.542T>C

1 paper

NM_004451.5

p.P173S

c.517C>T

1 paper

NM_004451.5

p.P171L

c.512C>T

1 paper

NM_004451.5

p.P169T

c.505C>A

2 papers

NM_004451.5

p.P165L

c.494C>T

1 paper

NM_004451.5

p.G157_R158del1

c.470_472delGGC

1 paper

NM_004451.5

p.G156V

c.467G>T

1 paper

NM_004451.5

p.R155Q

c.464G>A

1 paper

NM_004451.5

p.G148E

c.443G>A

4 papers

NM_004451.5

p.R126delFs

c.377_378delGG

1 paper

NM_004451.5

p.T124A

c.370A>G

1 paper

NM_004451.5

p.A192V

c.575C>T