Varaico: Literature-Extracted Genetic Variants

Gene:TCAP
Variant:p.I136_T137del2

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
2 papers
NM_003673.4
p.I136_T137del2
c.406_410del6
Surrounding Variants
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.E132A
c.395A>C
14 papers
NM_003673.4
p.E132Q
c.394G>C
1 paper
NM_003673.4
p.Q131E
c.391C>G
3 papers
NM_003673.4
p.P141A
c.421C>G
1 paper
NM_003673.4
p.R130S
c.388C>A
3 papers
NM_003673.4
p.R130C
c.388C>T
1 paper
NM_003673.4
p.P141L
c.422C>T
1 paper
NM_003673.4
p.P142R
c.425C>G
1 paper
NM_003673.4
p.P142L
c.425C>T
2 papers
NM_003673.4
p.P149S
c.445C>T
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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."