Varaico: Literature-Extracted Genetic Variants

MPP7

43 papers

RefSeq Summary

The protein encoded by this gene is a member of the p55 Stardust family of membrane-associated guanylate kinase (MAGUK) proteins, which function in the establishment of epithelial cell polarity. This ...

Pfam Domains

L27aa 15–67UCSCL27 domain

L27aa 73–124UCSCL27 domain

PDZaa 139–217UCSCPDZ domain

SH3_1aa 234–290UCSCSH3 domain

Guanylate_kinaa 367–562UCSCGuanylate kinase

Gene Aliases

HGNC Name

MAGUK p55 scaffold protein 7

HGNC Alias Symbol

FLJ32798

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001318170.2

p.N85K

c.255C>G

Surrounding Variants

1 paper

NM_001318170.2

p.N85K

c.255C>A

2 papers

NM_001318170.2

p.D78N

c.232G>A

2 papers

NM_001318170.2

p.Y60C

c.179A>G