Varaico: Literature-Extracted Genetic Variants

Gene:TCAP
Variant:p.E13del1

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
17 papers
NM_003673.4
p.E13del1
c.37_38delGAG
Surrounding Variants
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
3 papers
NM_003673.4
p.E12fs
c.34_35fs
1 paper
NM_003673.4
p.S11insFs
c.31dupT
9 papers
NM_003673.4
p.E12fs
c.34_35fs
1 paper
NM_003673.4
p.S11_E12del2
c.31_35del6
1 paper
NM_003673.4
p.E13A
c.38A>C
1 paper
NM_003673.4
p.E9K
c.25G>A
1 paper
NM_003673.4
p.N14_C15del2
c.40_44del6
1 paper
NM_003673.4
p.C8_E9insFs
c.24_25ins8
14 papers
NM_003673.4
p.E9_S11insFs
c.26_33dup8
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