Varaico: Literature-Extracted Genetic Variants

MAGI2

274 papers

RefSeq Summary

The protein encoded by this gene interacts with atrophin-1. Atrophin-1 contains a polyglutamine repeat, expansion of which is responsible for dentatorubral and pallidoluysian atrophy. This encoded pro...

Pfam Domains

PDZaa 17–98UCSCPDZ domain

Guanylate_kinaa 120–191UCSCGuanylate kinase

MAGI_u1aa 198–259UCSCUnstructured region on MAGI

WWaa 304–333UCSCWW domain

PDZaa 426–506UCSCPDZ domain

PDZaa 605–679UCSCPDZ domain

Gene Aliases

HGNC Name

membrane associated guanylate kinase, WW and PDZ domain containing 2

HGNC Alias Symbols

AIP1; ARIP1; KIAA0705; ACVRIP1; MAGI-2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012301.4

p.P584Q

c.1751C>A

Surrounding Variants

1 paper

NM_012301.4

p.G580S

c.1738G>A

1 paper

NM_012301.4

p.Y582_D588delFs

c.1744_1763del20

2 papers

NM_012301.4

p.M593V

c.1777A>G

1 paper

NM_012301.4

p.G597V

c.1790G>T

4 papers

NM_012301.4

p.L603R

c.1808T>G

1 paper

NM_012301.4

p.L603P

c.1808T>C

1 paper

NM_012301.4

p.P565S

c.1693C>T

4 papers

NM_012301.4

p.R564Q

c.1691G>A

1 paper

NM_012301.4

p.I561T

c.1682T>C

1 paper

NM_012301.4

p.V558I

c.1672G>A

1 paper

NM_012301.4

p.S557P

c.1669T>C

1 paper

NM_012301.4

p.R553Q

c.1658G>A