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.E63delFs

c.189delC

Surrounding Variants

1 paper

NM_012301.4

p.E64K

c.190G>A

1 paper

NM_012301.4

p.N70K

c.210C>G

1 paper

NM_012301.4

p.N70K

c.210C>A

1 paper

NM_012301.4

p.G57S

c.169G>A

1 paper

NM_012301.4

p.Y54F

c.161A>T

1 paper

NM_012301.4

p.G76V

c.227G>T

1 paper

NM_012301.4

p.T78S

c.233C>G

1 paper

NM_012301.4

p.K48insFs

c.143_144ins10

1 paper

NM_012301.4

p.R80delFs

c.239delC

1 paper

NM_012301.4

p.V82M

c.244G>A

1 paper

NM_012301.4

p.G45E

c.134G>A

1 paper

NM_012301.4

p.V85M

c.253G>A