Varaico: Literature-Extracted Genetic Variants

Gene:TRDN
Variant:p.K30R

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
2 papers
NM_006073.4
p.K30R
c.89A>G
Surrounding Variants
1 paper
NM_006073.4
p.V31L
c.91G>T
1 paper
NM_006073.4
p.V31L
c.91G>C
1 paper
NM_006073.4
p.L32M
c.94C>A
1 paper
NM_006073.4
p.K33R
c.98A>G
1 paper
NM_006073.4
p.K26R
c.77A>G
2 papers
NM_006073.4
p.V24E
c.71T>A
1 paper
NM_006073.4
p.G22E
c.65G>A
1 paper
NM_006073.4
p.G22_S23ins5
c.64_68ins15
2 papers
NM_006073.4
p.G22R
c.64G>C
2 papers
NM_006073.4
p.G22R
c.64G>A
1 paper
NM_006073.4
p.D39D
c.117C>T
1 paper
NM_006073.4
p.K20fs
c.58_59fs
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