Varaico: Literature-Extracted Genetic Variants

Gene:EDNRB
Variant:p.H340D

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
2 papers
NM_001122659.3
p.H340D
c.1018C>G
Surrounding Variants
2 papers
NM_001122659.3
p.L339F
c.1015C>T
2 papers
NM_001122659.3
p.L341fs
c.1021_1022fs
1 paper
NM_001122659.3
p.P338fs
c.1012_1013fs
1 paper
NM_001122659.3
p.L341delFs
c.1022_1023delGA
3 papers
NM_001122659.3
p.S342I
c.1025G>T
1 paper
NM_001122659.3
p.W336C
c.1008G>T
2 papers
NM_001122659.3
p.W336*
c.1008G>A
2 papers
NM_001122659.3
p.W336*
c.1007G>A
1 paper
NM_001122659.3
p.C335S
c.1004G>C
1 paper
NM_001122659.3
p.C335S
c.1003T>A
1 paper
NM_001122659.3
p.K346M
c.1037A>T
1 paper
NM_001122659.3
p.K346N
c.1038G>T
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