Varaico: Literature-Extracted Genetic Variants

Gene:MPP4
Variant:p.Q281*

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.Q281*
c.841C>T
Surrounding Variants
1 paper
NM_033066.3
p.Q288P
c.863A>C
2 papers
NM_033066.3
p.Q271Q
c.813G>A
1 paper
NM_033066.3
p.R290Q
c.869G>A
1 paper
NM_033066.3
p.P259S
c.775C>T
1 paper
NM_033066.3
p.Q256L
c.767A>T
1 paper
NM_033066.3
p.L307P
c.920T>C
1 paper
NM_033066.3
p.W254R
c.760T>C
1 paper
NM_033066.3
p.D236Y
c.706G>T
2 papers
NM_033066.3
p.S235C
c.704C>G
1 paper
NM_033066.3
p.V232A
c.695T>C
1 paper
NM_033066.3
p.I227L
c.679A>C
1 paper
NM_033066.3
p.R224Q
c.671G>A
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