Varaico: Literature-Extracted Genetic Variants

Gene:MPP1
Variant:p.T78I

MPP1

230 papers

RefSeq Summary

This gene encodes the prototype of the membrane-associated guanylate kinase (MAGUK) family proteins. MAGUKs interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and inte...

Pfam Domains

PDZaa 71–149UCSCPDZ domain
SH3_1aa 164–220UCSCSH3 domain
Guanylate_kinaa 281–453UCSCGuanylate kinase

Gene Aliases

HGNC Name

MAGUK p55 scaffold protein 1

HGNC Previous Symbol

DXS552E

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002436.4
p.T78I
c.233C>T
Surrounding Variants
1 paper
NM_002436.4
p.E79A
c.236A>C
3 papers
NM_002436.4
p.V77I
c.229G>A
1 paper
NM_002436.4
p.E79D
c.237A>T
1 paper
NM_002436.4
p.E80Q
c.238G>C
2 papers
NM_002436.4
p.E80K
c.238G>A
1 paper
NM_002436.4
p.P81S
c.241C>T
1 paper
NM_002436.4
p.E75A
c.224A>C
1 paper
NM_002436.4
p.Q73K
c.217C>A
1 paper
NM_002436.4
p.R70*
c.208C>T
1 paper
NM_002436.4
p.R67Q
c.200G>A
1 paper
NM_002436.4
p.R67W
c.199C>T
1 paper
NM_002436.4
p.G63R
c.187G>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."