Varaico: Literature-Extracted Genetic Variants

Gene:TRDN
Variant:p.D123_G124del1

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.D123_G124del1
c.368_370delCAT
Surrounding Variants
2 papers
NM_006073.4
p.D123N
c.367G>A
7 papers
NM_006073.4
p.T128S
c.382A>T
8 papers
NM_006073.4
p.T128S
c.383C>G
1 paper
NM_006073.4
p.D118N
c.352G>A
1 paper
NM_006073.4
p.S116Y
c.347C>A
1 paper
NM_006073.4
p.S115S
c.345A>G
1 paper
NM_006073.4
p.T99insFs
c.295dupA
2 papers
NM_006073.4
p.E98K
c.292G>A
1 paper
NM_006073.4
p.V92E
c.275T>A
2 papers
NM_006073.4
p.V92I
c.274G>A
1 paper
NM_006073.4
p.K90E
c.268A>G
1 paper
NM_006073.4
p.S86A
c.256T>G
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