Varaico: Literature-Extracted Genetic Variants

Gene:TCAP

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
1–12 of 153 variants
25 papers
NM_003673.4
p.Q53*
c.157C>T
20 papers
NM_003673.4
p.R153H
c.458G>A
17 papers
NM_003673.4
p.E13del1
c.37_38delGAG
17 papers
NM_003673.4
p.W25*
c.75G>A
14 papers
NM_003673.4
p.E9_S11insFs
c.26_33dup8
14 papers
NM_003673.4
p.W25*
c.74G>A
14 papers
NM_003673.4
p.E132Q
c.394G>C
14 papers
NM_003673.4
p.T137I
c.410C>T
12 papers
NM_003673.4
p.R106C
c.316C>T
10 papers
NM_003673.4
p.L30_S31delFs
c.90_91delGT
10 papers
NM_003673.4
p.R70W
c.208C>T
10 papers
NM_003673.4
p.R87Q
c.260G>A
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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."