Varaico: Literature-Extracted Genetic Variants

Gene:TCAP
Variant:p.R154H

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
1 paper
NM_003673.4
p.R154H
c.461G>A
Surrounding Variants
1 paper
NM_003673.4
p.R154C
c.460C>T
1 paper
NM_003673.4
p.R154fs
c.460_461fs
1 paper
NM_003673.4
p.R154_R158delFs
c.460_472del13
20 papers
NM_003673.4
p.R153H
c.458G>A
6 papers
NM_003673.4
p.A151A
c.453A>C
6 papers
NM_003673.4
p.S157A
c.469T>G
3 papers
NM_003673.4
p.R158S
c.472C>A
6 papers
NM_003673.4
p.R158C
c.472C>T
3 papers
NM_003673.4
p.G150S
c.448G>A
2 papers
NM_003673.4
p.P149S
c.445C>T
5 papers
NM_003673.4
p.S161A
c.481T>G
1 paper
NM_003673.4
p.Q162*
c.484C>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."