Varaico: Literature-Extracted Genetic Variants

Gene:TRDN
Variant:p.D18fs

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
7 papers
NM_006073.4
p.D18fs
c.52_53fs
Surrounding Variants
1 paper
NM_006073.4
p.D18H
c.52G>C
5 papers
NM_006073.4
p.D18fs
c.52_53fs
1 paper
NM_006073.4
p.S19C
c.55A>T
1 paper
NM_006073.4
p.V16V
c.48G>C
10 papers
NM_006073.4
p.D18_S19delFs
c.53_56del4
1 paper
NM_006073.4
p.K20R
c.59A>G
1 paper
NM_006073.4
p.K20fs
c.58_59fs
1 paper
NM_006073.4
p.G22_S23ins5
c.64_68ins15
2 papers
NM_006073.4
p.G22R
c.64G>C
2 papers
NM_006073.4
p.G22R
c.64G>A
1 paper
NM_006073.4
p.G22E
c.65G>A
2 papers
NM_006073.4
p.V24E
c.71T>A
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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."