Varaico: Literature-Extracted Genetic Variants

Gene:EDNRB
Variant:p.W54L

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.W54L
c.161G>T
Surrounding Variants
19 papers
NM_001122659.3
p.G57S
c.169G>A
1 paper
NM_001122659.3
p.K56delFs
c.168delC
1 paper
NM_001122659.3
p.P49S
c.145C>T
1 paper
NM_001122659.3
p.N59K
c.177C>A
3 papers
NM_001122659.3
p.A60T
c.178G>A
1 paper
NM_001122659.3
p.P48P
c.144A>T
1 paper
NM_001122659.3
p.P48insFs
c.143dupC
1 paper
NM_001122659.3
p.P48T
c.142C>A
1 paper
NM_001122659.3
p.S61I
c.182G>T
1 paper
NM_001122659.3
p.L62R
c.185T>G
1 paper
NM_001122659.3
p.L62Q
c.185T>A
1 paper
NM_001122659.3
p.L62L
c.186G>A
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