Varaico: Literature-Extracted Genetic Variants

Gene:EDNRB
Variant:p.I187insFs

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.I187insFs
c.560_561insA
Surrounding Variants
10 papers
NM_001122659.3
p.I187I
c.561C>T
1 paper
NM_001122659.3
p.G186A
c.557G>C
3 papers
NM_001122659.3
p.G186R
c.556G>C
3 papers
NM_001122659.3
p.G186R
c.556G>A
1 paper
NM_001122659.3
p.V185insFs
c.553_554insTG
13 papers
NM_001122659.3
p.V185M
c.553G>A
NM_001201397.2
p.V275M
c.823G>A
5 papers
NM_001201397.2
p.S274S
c.822T>C
NM_001122659.3
p.S184S
c.552T>C
1 paper
NM_001122659.3
p.L190L
c.568C>T
1 paper
NM_001122659.3
p.S191N
c.572G>A
1 paper
NM_001122659.3
p.A183V
c.548C>T
11 papers
NM_001122659.3
p.A183G
c.548C>G
1 paper
NM_001122659.3
p.A183P
c.547G>C
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