Varaico: Literature-Extracted Genetic Variants

Gene:EDNRB
Variant:p.L143F

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.L143F
c.429G>T
Surrounding Variants
1 paper
NM_001122659.3
p.L143F
c.429G>C
1 paper
NM_001122659.3
p.A144T
c.430G>A
1 paper
NM_001122659.3
p.A144A
c.432T>C
1 paper
NM_001122659.3
p.A141G
c.422C>G
1 paper
NM_001122659.3
p.D147N
c.439G>A
2 papers
NM_001122659.3
p.D147A
c.440A>C
1 paper
NM_001122659.3
p.L139L
c.417G>A
1 paper
NM_001122659.3
p.L148insFs
c.443_444insC
2 papers
NM_001122659.3
p.H150Y
c.448C>T
1 paper
NM_001122659.3
p.H150D
c.448C>G
1 paper
NM_001122659.3
p.N137Y
c.409A>T
1 paper
NM_001122659.3
p.G135A
c.404G>C
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