Varaico: Literature-Extracted Genetic Variants

Gene:TCAP
Variant:p.M99V

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.M99V
c.295A>G
Surrounding Variants
1 paper
NM_003673.4
p.K98R
c.293A>G
1 paper
NM_003673.4
p.M99I
c.297G>C
1 paper
NM_003673.4
p.A97T
c.289G>A
1 paper
NM_003673.4
p.A101T
c.301G>A
1 paper
NM_003673.4
p.E104*
c.310G>T
1 paper
NM_003673.4
p.E105K
c.313G>A
6 papers
NM_003673.4
p.E105Q
c.313G>C
12 papers
NM_003673.4
p.R106C
c.316C>T
1 paper
NM_003673.4
p.R106L
c.317G>T
1 paper
NM_003673.4
p.E107K
c.319G>A
7 papers
NM_003673.4
p.P90L
c.269C>T
1 paper
NM_003673.4
p.D108N
c.322G>A
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