Varaico: Literature-Extracted Genetic Variants

Gene:TCAP
Variant:p.E5fs

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.E5fs
c.13_14fs
Surrounding Variants
1 paper
NM_003673.4
p.E5fs
c.13_14fs
2 papers
NM_003673.4
p.E5delFs
c.13delG
2 papers
NM_003673.4
p.S7_C8delFs
c.19_23del5
2 papers
NM_003673.4
p.E5delFs
c.14_15delAG
1 paper
NM_003673.4
p.S4delFs
c.11_12delCA
2 papers
NM_003673.4
p.A2V
c.5C>T
2 papers
NM_003673.4
p.A2T
c.4G>A
1 paper
NM_003673.4
p.C8fs
c.22_23fs
1 paper
NM_003673.4
p.M1I
c.3G>A
14 papers
NM_003673.4
p.E9_S11insFs
c.26_33dup8
1 paper
NM_003673.4
p.C8_E9insFs
c.24_25ins8
3 papers
NM_003673.4
p.M1T
c.2T>C
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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."