Varaico: Literature-Extracted Genetic Variants

Gene:TRDN
Variant:p.I4insFs

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
Selected Variant
1 paper
NM_006073.4
p.I4insFs
c.11dupT
Surrounding Variants
1 paper
NM_006073.4
p.A6insFs
c.16_17insT
1 paper
NM_006073.4
p.A6V
c.17C>T
1 paper
NM_006073.4
p.T2insFs
c.4dupA
2 papers
NM_006073.4
p.G8Splc
c.22+1G>T
1 paper
NM_006073.4
p.G8insFs
c.22_23ins5
1 paper
NM_006073.4
p.M1fs
c.1_2fs
10 papers
NM_006073.4
p.G8Splc
c.22+29A>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."