Varaico: Literature-Extracted Genetic Variants

Gene:TCAP
Variant:p.N14_C15del2

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.N14_C15del2
c.40_44del6
Surrounding Variants
1 paper
NM_003673.4
p.E13A
c.38A>C
1 paper
NM_003673.4
p.C15_E16delFs
c.45_46delTG
3 papers
NM_003673.4
p.E12fs
c.34_35fs
9 papers
NM_003673.4
p.E12fs
c.34_35fs
1 paper
NM_003673.4
p.C15*
c.45T>A
7 papers
NM_003673.4
p.S11*
c.32C>A
2 papers
NM_003673.4
p.E12insFs
c.34dupG
1 paper
NM_003673.4
p.S11L
c.32C>T
17 papers
NM_003673.4
p.E13del1
c.37_38delGAG
1 paper
NM_003673.4
p.R17insFs
c.49dupC
1 paper
NM_003673.4
p.S11insFs
c.31dupT
1 paper
NM_003673.4
p.R17C
c.49C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."