Varaico: Literature-Extracted Genetic Variants

Gene:EDNRB
Variant:p.M132I

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.M132I
c.396G>C
Surrounding Variants
1 paper
NM_001122659.3
p.M132I
c.396G>T
1 paper
NM_001122659.3
p.M132I
c.396G>A
2 papers
NM_001122659.3
p.R133*
c.397C>T
1 paper
NM_001122659.3
p.C131_M132insFs
c.393_394insG
1 paper
NM_001122659.3
p.N134N
c.402C>T
2 papers
NM_001201397.2
p.G225S
c.673G>A
NM_001122659.3
p.G135S
c.403G>A
1 paper
NM_001122659.3
p.G135A
c.404G>C
1 paper
NM_001122659.3
p.K130fs
c.388_389fs
1 paper
NM_001122659.3
p.N129_K130insFs
c.387_388insC
1 paper
NM_001122659.3
p.N137Y
c.409A>T
2 papers
NM_001122659.3
p.Y127C
c.380A>G
1 paper
NM_001122659.3
p.L139L
c.417G>A
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