Varaico: Literature-Extracted Genetic Variants

Gene:MPP4
Variant:p.P142Q

MPP4

55 papers

RefSeq Summary

This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) protein family, with an N-terminal PDZ domain, a central src homology 3 region (SH3), and a C-terminal guanylate kinase-l...

Pfam Domains

L27aa 90–139UCSCL27 domain
PDZaa 155–232UCSCPDZ domain
Guanylate_kinaa 426–618UCSCGuanylate kinase

Gene Aliases

HGNC Name

MAGUK p55 scaffold protein 4

HGNC Previous Symbol

DLG6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_033066.3
p.P142Q
c.425C>A
Surrounding Variants
1 paper
NM_033066.3
p.P136A
c.406C>G
1 paper
NM_033066.3
p.L164_G165Splc
c.493-3C>T
1 paper
NM_033066.3
p.E172*
c.514G>T
1 paper
NM_033066.3
p.A188V
c.563C>T
1 paper
NM_033066.3
p.A116A
c.348T>C
1 paper
NM_033066.3
p.L114F
c.340C>T
1 paper
NM_033066.3
p.E109K
c.325G>A
1 paper
NM_033066.3
p.E100K
c.298G>A
1 paper
NM_033066.3
p.R99H
c.296G>A
2 papers
NM_033066.3
p.R99C
c.295C>T
1 paper
NM_033066.3
p.V201V
c.603A>G
1 paper
NM_033066.3
p.K78N
c.234G>T
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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."