Varaico: Literature-Extracted Genetic Variants

Gene:MYZAP

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
1–12 of 22 variants
6 papers
NM_001018100.5
p.Q254P
c.761A>C
2 papers
NM_001018100.5
p.S79*
c.236C>A
1 paper
NM_001018100.5
p.T7M
c.20C>T
1 paper
NM_001018100.5
p.L31I
c.91C>A
1 paper
NM_001018100.5
p.D57H
c.169G>C
1 paper
NM_001018100.5
p.V75A
c.224T>C
1 paper
NM_001018100.5
p.S79*
c.236C>G
1 paper
NM_001018100.5
p.Q83*
c.247C>T
1 paper
NM_001018100.5
p.V89M
c.265G>A
1 paper
NM_001018100.5
p.R117*
c.349C>T
1 paper
NM_001018100.5
p.R126K
c.377G>A
1 paper
NM_001018100.5
p.R130*
c.388C>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."