Varaico: Literature-Extracted Genetic Variants

Gene:TRDN
Variant:p.L201V

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
6 papers
NM_006073.4
p.L201V
c.601C>G
Surrounding Variants
1 paper
NM_006073.4
p.L201fs
c.601_602fs
1 paper
NM_006073.4
p.L201fs
c.601_602fs
1 paper
NM_006073.4
p.L201_E204delFs
c.601_610del10
2 papers
NM_006073.4
p.P196L
c.587C>T
1 paper
NM_006073.4
p.I190insFs
c.568dupA
1 paper
NM_006073.4
p.K183fs
c.547_548fs
2 papers
NM_006073.4
p.K182fs
c.544_545fs
3 papers
NM_006073.4
p.K182insFs
c.545dupA
1 paper
NM_006073.4
p.K179fs
c.535_536fs
1 paper
NM_006073.4
p.K177_E178Fs
c.531_533delinsGGFs
1 paper
NM_006073.4
p.E176fs
c.526_527fs
1 paper
NM_006073.4
p.K173E
c.517A>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."