Varaico: Literature-Extracted Genetic Variants

Gene:JPH1

JPH1

78 papers

RefSeq Summary

Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular i...

Pfam Domains

MORNaa 14–36UCSCMORN repeat
MORNaa 38–59UCSCMORN repeat
MORNaa 60–81UCSCMORN repeat
MORNaa 82–99UCSCMORN repeat
MORNaa 106–128UCSCMORN repeat
MORNaa 129–151UCSCMORN repeat

Gene Aliases

HGNC Name

junctophilin 1

HGNC Alias Symbols

JP-1; JP1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 102 variants
4 papers
NM_020647.4
p.R213P
c.638G>C
3 papers
NM_020647.4
p.Y141H
c.421T>C
3 papers
NM_020647.4
p.A405S
c.1213G>T
2 papers
NM_020647.4
p.G51V
c.152G>T
2 papers
NM_020647.4
p.Y118*
c.354C>G
2 papers
NM_020647.4
p.Y118*
c.354C>A
2 papers
NM_020647.4
p.D125fs
c.373_374fs
2 papers
NM_020647.4
p.D125delFs
c.373delC
2 papers
NM_020647.4
p.G135G
c.405A>T
2 papers
NM_020647.4
p.P158L
c.473C>T
2 papers
NM_020647.4
p.E169K
c.505G>A
2 papers
NM_020647.4
p.G192G
c.576T>G
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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."