Varaico: Literature-Extracted Genetic Variants

Gene:EDNRB
Variant:p.F240S

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
1 paper
NM_001122659.3
p.F240S
c.719T>C
Surrounding Variants
1 paper
NM_001122659.3
p.E221_A237delFs
c.663_711del49
1 paper
NM_001122659.3
p.I243I
c.729T>A
3 papers
NM_001122659.3
p.V234V
c.702C>T
1 paper
NM_001122659.3
p.A233G
c.698C>G
1 paper
NM_001122659.3
p.Y251Y
c.753T>C
1 paper
NM_001122659.3
p.Y247_Y251ins1
c.739_753dup15
8 papers
NM_001122659.3
p.R253*
c.757C>T
1 paper
NM_001122659.3
p.R253Q
c.758G>A
3 papers
NM_001122659.3
p.W226C
c.678G>T
3 papers
NM_001122659.3
p.W226C
c.678G>C
1 paper
NM_001122659.3
p.W226*
c.678G>A
1 paper
NM_001122659.3
p.I254insFs
c.760_761insCA
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."