Varaico: Literature-Extracted Genetic Variants

Gene:TCAP
Variant:p.G37Splc

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.G37Splc
c.110+5G>T
Surrounding Variants
7 papers
NM_003673.4
p.G37Splc
c.110+5G>A
1 paper
NM_003673.4
p.G37Splc
c.110+1G>A
2 papers
NM_003673.4
p.G37fs
c.109_110fs
1 paper
NM_003673.4
p.G37delFs
c.109_110delGG
3 papers
NM_003673.4
p.E35*
c.103G>T
1 paper
NM_003673.4
p.E35fs
c.103_104fs
7 papers
NM_003673.4
p.P34delFs
c.100delC
1 paper
NM_003673.4
p.R33Q
c.98G>A
3 papers
NM_003673.4
p.R33W
c.97C>T
2 papers
NM_003673.4
p.R33_E35del3
c.97_104del9
1 paper
NM_003673.4
p.T32I
c.95C>T
2 papers
NM_003673.4
p.S31fs
c.91_92fs
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