Varaico: Literature-Extracted Genetic Variants

Gene:MYZAP
Variant:p.Q254P

MYZAP

30 papers

RefSeq Summary

This gene encodes a protein that is abundantly expressed in cardiac tissue. The encoded protein localizes to intercalated discs in cardiomyocytes and functions as an activator of Rho-dependent serum-r...

Gene Aliases

HGNC Name

myocardial zonula adherens protein

HGNC Alias Symbols

MYOZAP; Gup; Gup1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_001018100.5
p.Q254P
c.761A>C
Surrounding Variants
1 paper
NM_001018100.5
p.Q248*
c.742C>T
1 paper
NM_001018100.5
p.A235T
c.703G>A
1 paper
NM_001018100.5
p.L268_E269Splc
c.805-4G>T
1 paper
NM_001018100.5
p.K295del1
c.883_884delAAA
1 paper
NM_001018100.5
p.K311_E312Splc
c.933+1G>A
1 paper
NM_001018100.5
p.Q142*
c.424C>T
1 paper
NM_001018100.5
p.V360M
c.1078G>A
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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."