Varaico: Literature-Extracted Genetic Variants

Gene:MPP1

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
1–12 of 73 variants
5 papers
NM_002436.4
p.I84V
c.250A>G
5 papers
NM_002436.4
p.G103D
c.308G>A
3 papers
NM_002436.4
p.P55T
c.163C>A
3 papers
NM_002436.4
p.V77I
c.229G>A
3 papers
NM_002436.4
p.W226G
c.676T>G
2 papers
NM_002436.4
p.R32W
c.94C>T
2 papers
NM_002436.4
p.E80K
c.238G>A
1 paper
NM_002436.4
p.M1K
c.2T>A
1 paper
NM_002436.4
p.M1I
c.3G>T
1 paper
NM_002436.4
p.T2A
c.4A>G
1 paper
NM_002436.4
p.K4E
c.10A>G
1 paper
NM_002436.4
p.G12D
c.35G>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."