Varaico: Literature-Extracted Genetic Variants

Gene:EDNRB
Variant:p.P383L

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
13 papers
NM_001122659.3
p.P383L
c.1148C>T
Surrounding Variants
1 paper
NM_001122659.3
p.I381T
c.1142T>C
1 paper
NM_001122659.3
p.Y387_L388insC
c.1159_1163ins3
1 paper
NM_001122659.3
p.L388fs
c.1162_1163fs
3 papers
NM_001122659.3
p.N378I
c.1133A>T
3 papers
NM_001122659.3
p.N378S
c.1133A>G
7 papers
NM_001122659.3
p.S390R
c.1168A>C
2 papers
NM_001122659.3
p.S376*
c.1127C>G
2 papers
NM_001122659.3
p.S376*
c.1127C>A
1 paper
NM_001122659.3
p.S376T
c.1126T>A
7 papers
NM_001122659.3
p.S390R
c.1170C>G
7 papers
NM_001122659.3
p.S390R
c.1170C>A
1 paper
NM_001122659.3
p.A375P
c.1123G>C
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