Varaico: Literature-Extracted Genetic Variants

Gene:MPP1
Variant:p.S304T

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.S304T
c.911G>C
Surrounding Variants
1 paper
NM_002436.4
p.D267A
c.800A>C
1 paper
NM_002436.4
p.P240P
c.720G>A
1 paper
NM_002436.4
p.P320P
c.960G>A
1 paper
NM_002436.4
p.E326D
c.978A>T
1 paper
NM_002436.4
p.E326D
c.978A>C
1 paper
NM_002436.4
p.E330*
c.988G>T
1 paper
NM_002436.4
p.E350E
c.1050G>A
1 paper
NM_002436.4
p.S353G
c.1057A>G
1 paper
NM_002436.4
p.I375_A376ins5
c.1123_1127ins15
3 papers
NM_002436.4
p.W226G
c.676T>G
1 paper
NM_002436.4
p.L217F
c.651G>T
1 paper
NM_002436.4
p.L217F
c.651G>C
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