Varaico: Literature-Extracted Genetic Variants

Gene:EDNRB
Variant:p.S191delFs

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.S191delFs
c.572_573delAC
Surrounding Variants
1 paper
NM_001122659.3
p.S191N
c.572G>A
1 paper
NM_001122659.3
p.L192L
c.576A>G
2 papers
NM_001122659.3
p.L176_S191del16
c.526_572del48
1 paper
NM_001122659.3
p.L190L
c.568C>T
1 paper
NM_001122659.3
p.S196T
c.587G>C
6 papers
NM_001122659.3
p.S196N
c.587G>A
10 papers
NM_001122659.3
p.I187I
c.561C>T
1 paper
NM_001122659.3
p.I187insFs
c.560_561insA
1 paper
NM_001122659.3
p.I197V
c.589A>G
1 paper
NM_001122659.3
p.G186A
c.557G>C
1 paper
NM_001122659.3
p.D198Y
c.592G>T
3 papers
NM_001122659.3
p.G186R
c.556G>C
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