Varaico: Literature-Extracted Genetic Variants

Gene:MPP4
Variant:p.Q63H

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
2 papers
NM_033066.3
p.Q63H
c.189G>T
Surrounding Variants
2 papers
NM_033066.3
p.Q63H
c.189G>C
1 paper
NM_033066.3
p.Q63insFs
c.188_189insC
1 paper
NM_033066.3
p.L56delins
c.167delinsCGATCTT
1 paper
NM_033066.3
p.G49V
c.146G>T
1 paper
NM_033066.3
p.Q25*
c.73C>T
1 paper
NM_033066.3
p.D70H
c.208G>C
1 paper
NM_033066.3
p.K78N
c.234G>T
1 paper
NM_033066.3
p.K78N
c.234G>C
2 papers
NM_033066.3
p.R99C
c.295C>T
1 paper
NM_033066.3
p.R99H
c.296G>A
1 paper
NM_033066.3
p.E100K
c.298G>A
1 paper
NM_033066.3
p.E109K
c.325G>A
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