Varaico: Literature-Extracted Genetic Variants

Gene:EDNRB
Variant:p.F292L

EDNRB

450 papers

RefSeq Summary

The protein encoded by this gene is a G protein-coupled receptor which activates a phosphatidylinositol-calcium second messenger system. Its ligand, endothelin, consists of a family of three potent va...

Pfam Domains

7tm_1aa 118–387UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

endothelin receptor type B

HGNC Previous Symbols

HSCR2; HSCR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_001122659.3
p.F292L
c.874T>C
Surrounding Variants
6 papers
NM_001122659.3
p.F292L
c.876T>G
6 papers
NM_001122659.3
p.F292L
c.876T>A
2 papers
NM_001122659.3
p.Y293fs
c.877_878fs
1 paper
NM_001122659.3
p.Y293Fs
c.877delinsTTFs
3 papers
NM_001122659.3
p.Y293delFs
c.877delA
3 papers
NM_001122659.3
p.Y293fs
c.877_878fs
2 papers
NM_001122659.3
p.Y293insFs
c.878dupA
2 papers
NM_001122659.3
p.Y293*
c.879T>G
2 papers
NM_001122659.3
p.Y293*
c.879T>A
1 paper
NM_001122659.3
p.A290insFs
c.869_870insT
2 papers
NM_001122659.3
p.T289insFs
c.866_867insG
1 paper
NM_001122659.3
p.L295I
c.883C>A
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