Varaico: Literature-Extracted Genetic Variants

Gene:TRDN
Variant:p.T426S

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.T426S
c.1277C>G
Surrounding Variants
1 paper
NM_006073.4
p.T426S
c.1276A>T
7 papers
NM_006073.4
p.R428*
c.1282C>T
NM_001251987.2
p.R429*
c.1285C>T
1 paper
NM_006073.4
p.E431*
c.1291G>T
1 paper
NM_006073.4
p.I433T
c.1298T>C
5 papers
NM_006073.4
p.I438S
c.1313T>G
2 papers
NM_006073.4
p.I438N
c.1313T>A
3 papers
NM_006073.4
p.D419E
c.1257C>G
4 papers
NM_006073.4
p.D419E
c.1257C>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."