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

2 papers

NM_012301.4

p.Y319F

c.956A>T

Surrounding Variants

1 paper

NM_012301.4

p.V318D

c.953T>A

1 paper

NM_012301.4

p.D322Y

c.964G>T

1 paper

NM_012301.4

p.E309D

c.927A>T

1 paper

NM_012301.4

p.E309D

c.927A>C

1 paper

NM_012301.4

p.W308*

c.924G>A

1 paper

NM_012301.4

p.W308*

c.923G>A

1 paper

NM_012301.4

p.D302G

c.905A>G

1 paper

NM_012301.4

p.E300V

c.899A>T

1 paper

NM_012301.4

p.P292S

c.874C>T

1 paper

NM_012301.4

p.M287I

c.861G>C

1 paper

NM_012301.4

p.E285delFs

c.854delT

2 papers

NM_012301.4

p.E285K

c.853G>A