Varaico: Literature-Extracted Genetic Variants

Gene:TRDN
Variant:p.T243A

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.T243A
c.727A>G
Surrounding Variants
1 paper
NM_006073.4
p.P247A
c.739C>G
1 paper
NM_006073.4
p.K248E
c.742A>G
1 paper
NM_006073.4
p.E249fs
c.745_746fs
1 paper
NM_006073.4
p.E251*
c.751G>T
1 paper
NM_006073.4
p.D252G
c.755A>G
1 paper
NM_006073.4
p.A257S
c.769G>T
1 paper
NM_006073.4
p.V258M
c.772G>A
1 paper
NM_006073.4
p.Q227fs
c.679_680fs
1 paper
NM_006073.4
p.G224V
c.671G>T
1 paper
NM_006073.4
p.E221A
c.662A>C
1 paper
NM_006073.4
p.E221*
c.661G>T
1 paper
NM_006073.4
p.A211T
c.631G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."