Varaico: Literature-Extracted Genetic Variants

Gene:TCAP
Variant:p.D27H

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.D27H
c.79G>C
Surrounding Variants
1 paper
NM_003673.4
p.K26R
c.77A>G
17 papers
NM_003673.4
p.W25*
c.75G>A
14 papers
NM_003673.4
p.W25*
c.74G>A
10 papers
NM_003673.4
p.L30_S31delFs
c.90_91delGT
1 paper
NM_003673.4
p.A23E
c.68C>A
3 papers
NM_003673.4
p.A23_E24ins8
c.67_71ins24
2 papers
NM_003673.4
p.S31fs
c.91_92fs
4 papers
NM_003673.4
p.W22*
c.66G>A
4 papers
NM_003673.4
p.W22*
c.65G>A
1 paper
NM_003673.4
p.T32I
c.95C>T
2 papers
NM_003673.4
p.R33_E35del3
c.97_104del9
3 papers
NM_003673.4
p.R33W
c.97C>T
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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."