Varaico: Literature-Extracted Genetic Variants

Gene:TCAP
Variant:p.E49K

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
6 papers
NM_003673.4
p.E49K
c.145G>A
Surrounding Variants
1 paper
NM_003673.4
p.E49Q
c.145G>C
1 paper
NM_003673.4
p.Q46fs
c.136_137fs
1 paper
NM_003673.4
p.Q46fs
c.136_137fs
2 papers
NM_003673.4
p.Q46delFs
c.136_137delCA
25 papers
NM_003673.4
p.Q53*
c.157C>T
1 paper
NM_003673.4
p.Q54fs
c.160_161fs
3 papers
NM_003673.4
p.G55insFs
c.165dupG
7 papers
NM_003673.4
p.Q56insFs
c.166_167insG
1 paper
NM_003673.4
p.Q56*
c.166C>T
1 paper
NM_003673.4
p.Q56fs
c.166_167fs
9 papers
NM_003673.4
p.C57W
c.171C>G
7 papers
NM_003673.4
p.Q58*
c.172C>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."