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

1–12 of 82 variants

24 papers

NM_004451.5

p.L388F

c.1162C>T

21 papers

NM_004451.5

p.L385P

c.1154T>C

20 papers

NM_004451.5

p.R376L

c.1127G>T

18 papers

NM_004451.5

p.R389C

c.1165C>T

17 papers

NM_004451.5

p.G368D

c.1103G>A

15 papers

NM_004451.5

p.R375Q

c.1124G>A

13 papers

NM_004451.5

p.R375L

c.1124G>T

11 papers

NM_004451.5

p.R352P

c.1055G>C

11 papers

NM_004451.5

p.L387F

c.1159C>T

9 papers

NM_004451.5

p.R377_A378del1

c.1130_1132delGGG

6 papers

NM_004451.5

p.R376_R377del1

c.1127_1129delGGC

5 papers

NM_004451.5

p.R188Q

c.563G>A