Varaico: Literature-Extracted Genetic Variants

Gene:TCAP
Variant:p.R130C

TCAP

219 papers

RefSeq Summary

Sarcomere assembly is regulated by the muscle protein titin. Titin is a giant elastic protein with kinase activity that extends half the length of a sarcomere. It serves as a scaffold to which myofibr...

Pfam Domains

Telethoninaa 4–167UCSCTelethonin protein

Gene Aliases

HGNC Name

titin-cap

HGNC Previous Symbol

LGMD2G

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_003673.4
p.R130C
c.388C>T
Surrounding Variants
1 paper
NM_003673.4
p.R130S
c.388C>A
1 paper
NM_003673.4
p.Q131E
c.391C>G
14 papers
NM_003673.4
p.E132Q
c.394G>C
1 paper
NM_003673.4
p.E132A
c.395A>C
2 papers
NM_003673.4
p.I136_T137del2
c.406_410del6
14 papers
NM_003673.4
p.T137I
c.410C>T
1 paper
NM_003673.4
p.K138E
c.412A>G
1 paper
NM_003673.4
p.E120V
c.359A>T
1 paper
NM_003673.4
p.E120fs
c.358_359fs
1 paper
NM_003673.4
p.E120fs
c.358_359fs
1 paper
NM_003673.4
p.E120_T121delFs
c.360_361delGA
3 papers
NM_003673.4
p.P141A
c.421C>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."