Varaico: Literature-Extracted Genetic Variants

Gene:TRDN
Variant:p.T42delFs

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.T42delFs
c.126delC
Surrounding Variants
1 paper
NM_006073.4
p.T43fs
c.127_128fs
1 paper
NM_006073.4
p.T43M
c.128C>T
1 paper
NM_006073.4
p.T42M
c.125C>T
1 paper
NM_006073.4
p.V41delFs
c.122delA
1 paper
NM_006073.4
p.S45I
c.134G>T
1 paper
NM_006073.4
p.D39D
c.117C>T
1 paper
NM_006073.4
p.P47fs
c.139_140fs
2 papers
NM_006073.4
p.W50*
c.149G>A
2 papers
NM_006073.4
p.W50*
c.150G>A
1 paper
NM_006073.4
p.K33R
c.98A>G
1 paper
NM_006073.4
p.L32M
c.94C>A
1 paper
NM_006073.4
p.I54V
c.160A>G
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