Varaico: Literature-Extracted Genetic Variants

Gene:TRDN
Variant:p.Q205_K206delFs

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.Q205_K206delFs
c.613_617del5
Surrounding Variants
1 paper
NM_006073.4
p.K206N
c.618G>T
1 paper
NM_006073.4
p.K206N
c.618G>C
4 papers
NM_006073.4
p.K206delFs
c.618delC
1 paper
NM_006073.4
p.A208fs
c.622_623fs
1 paper
NM_006073.4
p.Q205fs
c.613_614fs
15 papers
NM_006073.4
p.Q205*
c.613C>T
3 papers
NM_006073.4
p.A208fs
c.622_623fs
1 paper
NM_006073.4
p.E204fs
c.610_611fs
1 paper
NM_006073.4
p.A211T
c.631G>A
1 paper
NM_006073.4
p.E221*
c.661G>T
1 paper
NM_006073.4
p.E221A
c.662A>C
1 paper
NM_006073.4
p.G224V
c.671G>T
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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."