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_001278376.3

p.G13A

c.38G>C

Surrounding Variants

1 paper

NM_001278376.3

p.S15C

c.44C>G

1 paper

NM_001278376.3

p.Q30Q

c.90G>A

1 paper

NM_005374.5

p.E30Q

c.88G>C

1 paper

NM_005374.5

p.E30E

c.90G>A

1 paper

NM_005374.5

p.A5T

c.13G>A

1 paper

NM_005374.5

p.P2A

c.4C>G

1 paper

NM_005374.5

p.M1fs

c.1_2fs

1 paper

NM_001278370.2

p.L41P

c.122T>C

1 paper

NM_001278370.2

p.L41F

c.121C>T

1 paper

NM_001278370.2

p.W30*

c.90G>A

1 paper

NM_001278370.2

p.W30*

c.89G>A

1 paper

NM_001278370.2

p.E26A

c.77A>C