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

1–12 of 49 variants

5 papers

NM_001932.6

p.S206Y

c.617C>A

2 papers

NM_001932.6

p.R275*

c.823C>T

2 papers

NM_001932.6

p.G362R

c.1084G>C

2 papers

NM_001932.6

p.G362R

c.1084G>A

2 papers

NM_001932.6

p.M516V

c.1546A>G

1 paper

NM_001932.6

p.R89insFs

c.266_267ins5

1 paper

NM_001932.6

p.R89fs

c.265_266fs

1 paper

NM_001932.6

p.S157_G158delFs

c.471_472delCT

1 paper

NM_001932.6

p.A159fs

c.475_476fs

1 paper

NM_001932.6

p.R173W

c.517A>T

1 paper

NM_001932.6

p.E182_L183delFs

c.546_547delGC

1 paper

NM_001932.6

p.R223H

c.668G>A