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

21 papers

NM_004451.5

p.L385P

c.1154T>C

Surrounding Variants

4 papers

NM_004451.5

p.T384T

c.1152G>A

11 papers

NM_004451.5

p.L387F

c.1159C>T

24 papers

NM_004451.5

p.L388F

c.1162C>T

18 papers

NM_004451.5

p.R389C

c.1165C>T

4 papers

NM_004451.5

p.A378A

c.1134G>A

1 paper

NM_004451.5

p.A378P

c.1132G>C

3 papers

NM_004451.5

p.R377R

c.1131G>A

9 papers

NM_004451.5

p.R377_A378del1

c.1130_1132delGGG

1 paper

NM_004451.5

p.R376Q

c.1127G>A

20 papers

NM_004451.5

p.R376L

c.1127G>T

4 papers

NM_004451.5

p.R377_A378del2

c.1129_1133del6

1 paper

NM_004451.5

p.R376R

c.1126C>A