Varaico: Literature-Extracted Genetic Variants

Gene:EDNRB
Variant:p.C109R

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
8 papers
NM_001122659.3
p.C109R
c.325T>C
Surrounding Variants
1 paper
NM_001122659.3
p.S108S
c.324C>A
1 paper
NM_001122659.3
p.S108Y
c.323C>A
3 papers
NM_001122659.3
p.L110F
c.328C>T
1 paper
NM_001122659.3
p.V111L
c.331G>T
1 paper
NM_001122659.3
p.T105M
c.314C>T
5 papers
NM_001122659.3
p.N104I
c.311A>T
4 papers
NM_001122659.3
p.N104Y
c.310A>T
1 paper
NM_001122659.3
p.I103N
c.308T>A
1 paper
NM_001122659.3
p.G115R
c.343G>C
1 paper
NM_001122659.3
p.K101*
c.301A>T
1 paper
NM_001122659.3
p.F100delFs
c.299_300delGA
1 paper
NM_001122659.3
p.F100F
c.300C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."