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.G392Splc

c.1175-1G>T

Surrounding Variants

1 paper

NM_001932.6

p.V415I

c.1243G>A

1 paper

NM_001932.6

p.H419Y

c.1255C>T

1 paper

NM_001932.6

p.L390V

c.1168C>G

2 papers

NM_001932.6

p.G362R

c.1084G>C

2 papers

NM_001932.6

p.G362R

c.1084G>A

1 paper

NM_001932.6

p.M359L

c.1075A>T

1 paper

NM_001932.6

p.M359L

c.1075A>C

1 paper

NM_001932.6

p.S354L

c.1061C>T

1 paper

NM_001932.6

p.H419Y

c.1255C>T

1 paper

NM_001932.6

p.H427R

c.1280A>G

1 paper

NM_001932.6

p.D445N

c.1333G>A

1 paper

NM_001932.6

p.N460N

c.1380T>C