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.G370R

c.1108G>C

Surrounding Variants

1 paper

NM_004451.5

p.G370R

c.1108G>A

1 paper

NM_004451.5

p.P369P

c.1107C>T

4 papers

NM_004451.5

p.G370G

c.1110A>T

17 papers

NM_004451.5

p.G368D

c.1103G>A

1 paper

NM_004451.5

p.G372del1

c.1114_1116delGGT

1 paper

NM_004451.5

p.R366G

c.1096C>G

6 papers

NM_004451.5

p.R376_R377del1

c.1127_1129delGGC

1 paper

NM_004451.5

p.R375R

c.1123C>A

15 papers

NM_004451.5

p.R375Q

c.1124G>A

13 papers

NM_004451.5

p.R375L

c.1124G>T

1 paper

NM_004451.5

p.R376R

c.1126C>A

1 paper

NM_004451.5

p.R376Q

c.1127G>A