Varaico: Literature-Extracted Genetic Variants

Gene:TRDN
Variant:p.K179fs

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.K179fs
c.535_536fs
Surrounding Variants
1 paper
NM_006073.4
p.K177_E178Fs
c.531_533delinsGGFs
1 paper
NM_006073.4
p.E176fs
c.526_527fs
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.K183fs
c.547_548fs
1 paper
NM_006073.4
p.K173E
c.517A>G
2 papers
NM_006073.4
p.E168_G170del3
c.502_509del9
2 papers
NM_006073.4
p.E168_G170del0
c.503_508del6
2 papers
NM_006073.4
p.G170*
c.508G>T
5 papers
NM_006073.4
p.E168*
c.502G>T
1 paper
NM_006073.4
p.V162Splc
c.485-2A>G
1 paper
NM_006073.4
p.I190insFs
c.568dupA
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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."