Varaico: Literature-Extracted Genetic Variants

Gene:JSRP1

JSRP1

29 papers

RefSeq Summary

The protein encoded by this gene is involved in excitation-contraction coupling at the sarcoplasmic reticulum. The encoded protein can interact with CACNA1S, CACNB1, and calsequestrin to help regulate...

Pfam Domains

JSRPaa 115–177UCSCJunctional sarcoplasmic reticulum protein

Gene Aliases

HGNC Name

junctional sarcoplasmic reticulum protein 1

HGNC Alias Symbols

JP-45; FLJ32416

Papers
RefSeq ID
Protein change
DNA change
1–12 of 27 variants
4 papers
NM_144616.4
p.G150A
c.449G>C
2 papers
NM_144616.4
p.P312delFs
c.936delG
1 paper
NM_144616.4
p.M1I
c.3G>C
1 paper
NM_144616.4
p.K65K
c.195G>A
1 paper
NM_144616.4
p.P76R
c.227C>G
1 paper
NM_144616.4
p.V92A
c.275T>C
1 paper
NM_144616.4
p.P108L
c.323C>T
1 paper
NM_144616.4
p.E116K
c.346G>A
1 paper
NM_144616.4
p.C127G
c.379T>G
1 paper
NM_144616.4
p.S123_S132insFs
c.367_395dup29
1 paper
NM_144616.4
p.L133fs
c.397_398fs
1 paper
NM_144616.4
p.R157P
c.470G>C
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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."