Varaico: Literature-Extracted Genetic Variants

MPP3

51 papers

RefSeq Summary

This gene product is a member of a family of membrane-associated proteins termed MAGUKs (membrane-associated guanylate kinase homologs). MAGUKs interact with the cytoskeleton and regulate cell prolife...

Pfam Domains

L27aa 11–63UCSCL27 domain

L27aa 69–120UCSCL27 domain

PDZaa 137–215UCSCPDZ domain

SH3_2aa 230–293UCSCVariant SH3 domain

Guanylate_kinaa 384–572UCSCGuanylate kinase

Gene Aliases

HGNC Name

MAGUK p55 scaffold protein 3

HGNC Previous Names

membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3); membrane protein, palmitoylated 3; membrane palmitoylated protein 3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001932.6

p.H427R

c.1280A>G

Surrounding Variants

1 paper

NM_001932.6

p.H419Y

c.1255C>T

1 paper

NM_001932.6

p.D445N

c.1333G>A

1 paper

NM_001932.6

p.N460N

c.1380T>C

1 paper

NM_001932.6

p.A471_V472del2

c.1411_1415del6

1 paper

NM_001932.6

p.C479fs

c.1435_1436fs

1 paper

NM_001932.6

p.C479_L480delFs

c.1437_1440del4

1 paper

NM_001932.6

p.I501fs

c.1501_1502fs

1 paper

NM_001932.6

p.I501_F502delFs

c.1501_1505del5

1 paper

NM_001932.6

p.K504_P505delFs

c.1512_1515del4

2 papers

NM_001932.6

p.M516V

c.1546A>G

1 paper

NM_001932.6

p.P526_F527delFs

c.1576_1580del5

1 paper

NM_001932.6

p.H419Y

c.1255C>T