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.K52_I53Splc

c.156+32G>A

Surrounding Variants

1 paper

NM_001318170.2

p.L38I

c.112C>A

2 papers

NM_001318170.2

p.T36S

c.106A>T

1 paper

NM_001318170.2

p.S31C

c.91A>T

1 paper

NM_001318170.2

p.Q24*

c.70C>T