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.Q635*

c.1903C>T

Surrounding Variants

1 paper

NM_012301.4

p.Q635L

c.1904A>T

1 paper

NM_012301.4

p.C637Y

c.1910G>A

1 paper

NM_012301.4

p.P638S

c.1912C>T

1 paper

NM_012301.4

p.R627Q

c.1880G>A

1 paper

NM_012301.4

p.R627W

c.1879C>T

1 paper

NM_012301.4

p.G643G

c.1929C>T

1 paper

NM_012301.4

p.G625*

c.1873G>T

1 paper

NM_012301.4

p.A620G

c.1859C>G

1 paper

NM_012301.4

p.N650K

c.1950C>G

1 paper

NM_012301.4

p.N650K

c.1950C>A

1 paper

NM_012301.4

p.Q651E

c.1951C>G

1 paper

NM_012301.4

p.G616R

c.1846G>C