Varaico: Literature-Extracted Genetic Variants

Gene:TRDN
Variant:p.I54V

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.I54V
c.160A>G
Surrounding Variants
1 paper
NM_006073.4
p.A55T
c.163G>A
4 papers
NM_006073.4
p.L56P
c.167T>C
3 papers
NM_006073.4
p.V53_L56del4
c.157_167del12
1 paper
NM_006073.4
p.I57T
c.170T>C
2 papers
NM_006073.4
p.W50*
c.150G>A
2 papers
NM_006073.4
p.W50*
c.149G>A
2 papers
NM_006073.4
p.L56_I57del1
c.168_170delATC
5 papers
NM_006073.4
p.T59M
c.176C>T
13 papers
NM_006073.4
p.T59R
c.176C>G
1 paper
NM_006073.4
p.P47fs
c.139_140fs
3 papers
NM_006073.4
p.W60L
c.179G>T
1 paper
NM_006073.4
p.S61*
c.182C>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."