Varaico: Literature-Extracted Genetic Variants

Gene:MPP1
Variant:p.V207A

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.V207A
c.620T>C
Surrounding Variants
1 paper
NM_002436.4
p.E208K
c.622G>A
1 paper
NM_002436.4
p.K212E
c.634A>G
1 paper
NM_002436.4
p.D199E
c.597C>A
1 paper
NM_002436.4
p.G216R
c.646G>A
1 paper
NM_002436.4
p.D198A
c.593A>C
1 paper
NM_002436.4
p.L217F
c.651G>T
1 paper
NM_002436.4
p.L217F
c.651G>C
1 paper
NM_002436.4
p.G189A
c.566G>C
3 papers
NM_002436.4
p.W226G
c.676T>G
1 paper
NM_002436.4
p.K173Q
c.517A>C
1 paper
NM_002436.4
p.P240P
c.720G>A
1 paper
NM_002436.4
p.D267A
c.800A>C
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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."