Varaico: Literature-Extracted Genetic Variants

Gene:TRDN

TRDN

216 papers

RefSeq Summary

This gene encodes an integral membrane protein found in skeletal and cardiac muscle. The encoded protein plays a role in skeletal muscle excitation-contraction coupling as part of the calcium release ...

Pfam Domains

Asp-B-Hydro_Naa 41–85UCSCAspartyl beta-hydroxylase N-terminal region

Gene Aliases

HGNC Name

triadin

HGNC Alias Symbol

TRISK

Papers
RefSeq ID
Protein change
DNA change
1–12 of 273 variants
15 papers
NM_006073.4
p.Q205*
c.613C>T
13 papers
NM_006073.4
p.T59R
c.176C>G
10 papers
NM_006073.4
p.G8Splc
c.22+29A>G
10 papers
NM_006073.4
p.D18_S19delFs
c.53_56del4
8 papers
NM_006073.4
p.T128S
c.383C>G
7 papers
NM_006073.4
p.D18fs
c.52_53fs
7 papers
NM_006073.4
p.T128S
c.382A>T
7 papers
NM_006073.4
p.K147fs
c.439_440fs
6 papers
NM_006073.4
p.N9fs
c.25_26fs
6 papers
NM_006073.4
p.L201V
c.601C>G
6 papers
NM_006073.4
p.R428*
c.1282C>T
5 papers
NM_006073.4
p.D18fs
c.52_53fs
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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."