Varaico: Literature-Extracted Genetic Variants

Gene:MPP4
Variant:p.R384C

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.R384C
c.1150C>T
Surrounding Variants
1 paper
NM_033066.3
p.M383L
c.1147A>C
1 paper
NM_033066.3
p.R388fs
c.1162_1163fs
1 paper
NM_033066.3
p.R422L
c.1265G>T
1 paper
NM_033066.3
p.L447fs
c.1339_1340fs
1 paper
NM_033066.3
p.E366E
c.1098G>A
1 paper
NM_033066.3
p.L360V
c.1078C>G
1 paper
NM_033066.3
p.H461R
c.1382A>G
1 paper
NM_033066.3
p.Y469Y
c.1407C>T
1 paper
NM_033066.3
p.Y489C
c.1466A>G
1 paper
NM_033066.3
p.M493V
c.1477A>G
1 paper
NM_033066.3
p.H536N
c.1606C>A
1 paper
NM_033066.3
p.T564S
c.1690A>T
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