Varaico: Literature-Extracted Genetic Variants

Gene:MPP1
Variant:p.M1K

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.M1K
c.2T>A
Surrounding Variants
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
1 paper
NM_002436.4
p.H15N
c.43C>A
1 paper
NM_002436.4
p.L21V
c.61C>G
1 paper
NM_002436.4
p.S31R
c.93T>A
2 papers
NM_002436.4
p.R32W
c.94C>T
1 paper
NM_002436.4
p.R32G
c.94C>G
1 paper
NM_002436.4
p.E34Q
c.100G>C
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