Varaico: Literature-Extracted Genetic Variants

Gene:TCAP
Variant:p.Q79L

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.Q79L
c.236A>T
Surrounding Variants
8 papers
NM_003673.4
p.Q82*
c.244C>T
1 paper
NM_003673.4
p.Y85_P92del0
c.253_276del24
8 papers
NM_003673.4
p.R76C
c.226C>T
7 papers
NM_003673.4
p.Y85*
c.255C>A
3 papers
NM_003673.4
p.Y85*
c.255C>G
2 papers
NM_003673.4
p.Q86*
c.256C>T
1 paper
NM_003673.4
p.G72D
c.215G>A
1 paper
NM_003673.4
p.Q86Q
c.258G>A
1 paper
NM_003673.4
p.R87W
c.259C>T
10 papers
NM_003673.4
p.R87Q
c.260G>A
3 papers
NM_003673.4
p.M71T
c.212T>C
2 papers
NM_003673.4
p.R70Q
c.209G>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."