Varaico: Literature-Extracted Genetic Variants

MPP2

44 papers

RefSeq Summary

Palmitoylated membrane protein 2 is a member of a family of membrane-associated proteins termed MAGUKs (membrane-associated guanylate kinase homologs). MAGUKs interact with the cytoskeleton and regul...

Pfam Domains

L27aa 1–54UCSCL27 domain

L27aa 57–109UCSCL27 domain

PDZaa 130–205UCSCPDZ domain

SH3_2aa 218–280UCSCVariant SH3 domain

Guanylate_kinaa 338–528UCSCGuanylate kinase

Gene Aliases

HGNC Name

MAGUK p55 scaffold protein 2

HGNC Alias Symbol

DKFZp761D0712

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001278370.2

p.A182T

c.544G>A

Surrounding Variants

1 paper

NM_005374.5

p.R139H

c.416G>A

1 paper

NM_001278372.2

p.P158L

c.473C>T

1 paper

NM_005374.5

p.V133I

c.397G>A

1 paper

NM_001278372.2

p.G172R

c.514G>C

1 paper

NM_001278372.2

p.G172R

c.514G>A

1 paper

NM_005374.5

p.F100fs

c.298_299fs

1 paper

NM_005374.5

p.F100delFs

c.299delA

1 paper

NM_005374.5

p.S85_S86del1

c.255_257delCTG

2 papers

NM_005374.5

p.Q80_L81delins

c.240_241delinsGC

1 paper

NM_005374.5

p.E69_L70Fs

c.207_208delinsGFs

1 paper

NM_005374.5

p.E69_L70delins

c.207_208delinsGC

1 paper

NM_005374.5

p.E61A

c.182A>C