Varaico: Literature-Extracted Genetic Variants

Gene:TCAP
Variant:p.R17insFs

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.R17insFs
c.49dupC
Surrounding Variants
1 paper
NM_003673.4
p.R17C
c.49C>T
1 paper
NM_003673.4
p.R17H
c.50G>A
1 paper
NM_003673.4
p.C15*
c.45T>A
1 paper
NM_003673.4
p.R18W
c.52C>T
5 papers
NM_003673.4
p.R18Q
c.53G>A
1 paper
NM_003673.4
p.C15_E16delFs
c.45_46delTG
2 papers
NM_003673.4
p.E19_A23del5
c.55_68del15
1 paper
NM_003673.4
p.N14_C15del2
c.40_44del6
1 paper
NM_003673.4
p.E13A
c.38A>C
1 paper
NM_003673.4
p.A20delFs
c.59delC
1 paper
NM_003673.4
p.A20A
c.60C>G
1 paper
NM_003673.4
p.F21I
c.61T>A
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