Varaico: Literature-Extracted Genetic Variants

Gene:TCAP
Variant:p.S161A

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
5 papers
NM_003673.4
p.S161A
c.481T>G
Surrounding Variants
1 paper
NM_003673.4
p.Q162*
c.484C>T
1 paper
NM_003673.4
p.E163K
c.487G>A
3 papers
NM_003673.4
p.R158S
c.472C>A
6 papers
NM_003673.4
p.R158C
c.472C>T
1 paper
NM_003673.4
p.Q165_R166insG
c.493_497ins3
3 papers
NM_003673.4
p.Q165E
c.493C>G
2 papers
NM_003673.4
p.R166_G167delFs
c.496_499del4
6 papers
NM_003673.4
p.S157A
c.469T>G
1 paper
NM_003673.4
p.G167G
c.501C>T
1 paper
NM_003673.4
p.R154H
c.461G>A
1 paper
NM_003673.4
p.R154C
c.460C>T
1 paper
NM_003673.4
p.R154fs
c.460_461fs
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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."