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.P24Fs

c.70_72delinsGTCCFs

Surrounding Variants

1 paper

NM_012301.4

p.P24insFs

c.70dupC

1 paper

NM_012301.4

p.R22_P24delFs

c.64_71del8

1 paper

NM_012301.4

p.G21_E25Fs

c.61_73delinsGGGFs

1 paper

NM_012301.4

p.N23_P24Fs

c.69_71delinsGCTAFs

1 paper

NM_012301.4

p.S18_P24Fs

c.54_71delinsAFs

1 paper

NM_012301.4

p.P24fs

c.70_71fs

1 paper

NM_012301.4

p.R22_P24delins

c.64_70delinsG

1 paper

NM_012301.4

p.R22fs

c.64_65fs

1 paper

NM_012301.4

p.G21G

c.63C>G

1 paper

NM_012301.4

p.G29D

c.86G>A

1 paper

NM_012301.4

p.G29insFs

c.86dupG

1 paper

NM_012301.4

p.V19fs

c.55_56fs