Varaico: Literature-Extracted Genetic Variants

Gene:EDNRB
Variant:p.N395insFs

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.N395insFs
c.1184dupA
Surrounding Variants
1 paper
NM_001122659.3
p.N395K
c.1185C>G
1 paper
NM_001122659.3
p.N395fs
c.1183_1184fs
1 paper
NM_001122659.3
p.N395K
c.1185C>A
5 papers
NM_001122659.3
p.F393L
c.1179C>G
5 papers
NM_001122659.3
p.F393L
c.1179C>A
6 papers
NM_001122659.3
p.F393L
c.1177T>C
1 paper
NM_001122659.3
p.R392*
c.1174A>T
7 papers
NM_001122659.3
p.S390R
c.1170C>G
7 papers
NM_001122659.3
p.S390R
c.1170C>A
7 papers
NM_001122659.3
p.S390R
c.1168A>C
1 paper
NM_001122659.3
p.L388fs
c.1162_1163fs
1 paper
NM_001122659.3
p.Y387_L388insC
c.1159_1163ins3
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