Varaico: Literature-Extracted Genetic Variants

Gene:TRDN
Variant:p.K147delFs

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.K147delFs
c.439_440delTT
Surrounding Variants
7 papers
NM_006073.4
p.K147fs
c.439_440fs
1 paper
NM_006073.4
p.K147K
c.441G>A
1 paper
NM_006073.4
p.K147fs
c.439_440fs
1 paper
NM_006073.4
p.D146_T148delFs
c.438_442del5
1 paper
NM_006073.4
p.K147*
c.439A>T
2 papers
NM_006073.4
p.H144Y
c.430C>T
1 paper
NM_006073.4
p.E152G
c.455A>G
1 paper
NM_006073.4
p.E142fs
c.424_425fs
1 paper
NM_006073.4
p.E155fs
c.463_464fs
1 paper
NM_006073.4
p.E155delFs
c.463delC
5 papers
NM_006073.4
p.V162Splc
c.484+1189G>A
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