Varaico: Literature-Extracted Genetic Variants

Gene:TCAP
Variant:p.E120fs

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.E120fs
c.358_359fs
Surrounding Variants
1 paper
NM_003673.4
p.E120fs
c.358_359fs
1 paper
NM_003673.4
p.E120V
c.359A>T
1 paper
NM_003673.4
p.E120_T121delFs
c.360_361delGA
4 papers
NM_003673.4
p.A118V
c.353C>T
1 paper
NM_003673.4
p.Q114R
c.341A>G
2 papers
NM_003673.4
p.L113F
c.337C>T
1 paper
NM_003673.4
p.Q112*
c.334C>T
1 paper
NM_003673.4
p.R130S
c.388C>A
3 papers
NM_003673.4
p.R130C
c.388C>T
1 paper
NM_003673.4
p.Q131E
c.391C>G
1 paper
NM_003673.4
p.D108E
c.324C>A
1 paper
NM_003673.4
p.D108E
c.324C>G
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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."