Varaico: Literature-Extracted Genetic Variants

Gene:EDNRB
Variant:p.L17P

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.L17P
c.50T>C
Surrounding Variants
2 papers
NM_001122659.3
p.L17F
c.49C>T
1 paper
NM_001122659.3
p.A14_L15delFs
c.42_45del4
1 paper
NM_001201397.2
p.C109*
c.327C>A
1 paper
NM_001122659.3
p.C19delFs
c.56delC
1 paper
NM_001122659.3
p.A14V
c.41C>T
3 papers
NM_001122659.3
p.A14T
c.40G>A
1 paper
NM_001122659.3
p.V13L
c.37G>C
1 paper
NM_001122659.3
p.P5_L12delFs
c.15_36del22
1 paper
NM_001122659.3
p.L12insFs
c.35_36insT
1 paper
NM_001122659.3
p.L12delFs
c.35delA
1 paper
NM_001122659.3
p.S22*
c.65C>A
1 paper
NM_001122659.3
p.R10R
c.30C>T
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