Varaico: Literature-Extracted Genetic Variants

Gene:MPP1
Variant:p.E45A

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.E45A
c.134A>C
Surrounding Variants
1 paper
NM_002436.4
p.E45D
c.135G>T
1 paper
NM_002436.4
p.E45D
c.135G>C
1 paper
NM_002436.4
p.L40*
c.119T>A
1 paper
NM_002436.4
p.V36E
c.107T>A
1 paper
NM_002436.4
p.V36L
c.106G>T
1 paper
NM_002436.4
p.V36L
c.106G>C
3 papers
NM_002436.4
p.P55T
c.163C>A
1 paper
NM_002436.4
p.S57I
c.170G>T
1 paper
NM_002436.4
p.A59P
c.175G>C
1 paper
NM_002436.4
p.G63R
c.187G>A
1 paper
NM_002436.4
p.R67W
c.199C>T
1 paper
NM_002436.4
p.R67Q
c.200G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."