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.K433Splc

c.1298+15T>C

Surrounding Variants

1 paper

NM_001318170.2

p.T427delFs

c.1281delT

3 papers

NM_001318170.2

p.Y417*

c.1251C>G

3 papers

NM_001318170.2

p.Y417*

c.1251C>A

1 paper

NM_001318170.2

p.N500I

c.1499A>T

1 paper

NM_001318170.2

p.A512V

c.1535C>T

1 paper

NM_001318170.2

p.K514N

c.1542A>T

1 paper

NM_001318170.2

p.K514N

c.1542A>C

1 paper

NM_001318170.2

p.H402Splc

c.1205-4539A>G

1 paper

NM_001318170.2

p.G536D

c.1607G>A

2 papers

NM_001318170.2

p.N553S

c.1658A>G

1 paper

NM_001318170.2

p.E554E

c.1662G>A

1 paper

NM_001318170.2

p.S576L

c.1727C>T