Varaico: Literature-Extracted Genetic Variants

Gene:TRDN
Variant:p.K385delFs

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.K385delFs
c.1155delT
Surrounding Variants
1 paper
NM_006073.4
p.K385fs
c.1153_1154fs
1 paper
NM_006073.4
p.A387V
c.1160C>T
1 paper
NM_006073.4
p.T383I
c.1148C>T
1 paper
NM_006073.4
p.V389Splc
c.1165+48A>G
1 paper
NM_006073.4
p.D379Splc
c.1136-53A>G
1 paper
NM_006073.4
p.V389L
c.1165G>T
1 paper
NM_006073.4
p.V389L
c.1165G>C
1 paper
NM_006073.4
p.K396delFs
c.1186delT
2 papers
NM_006073.4
p.K396Splc
c.1187-2A>G
1 paper
NM_001251987.2
p.Q398R
c.1193A>G
1 paper
NM_006073.4
p.Q397delFs
c.1189_1190delTG
1 paper
NM_006073.4
p.E398G
c.1193A>G
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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."