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.R415W

c.1243C>T

Surrounding Variants

1 paper

NM_012301.4

p.R415Q

c.1244G>A

1 paper

NM_012301.4

p.T414N

c.1241C>A

1 paper

NM_012301.4

p.A417T

c.1249G>A

1 paper

NM_012301.4

p.L412L

c.1236C>T

1 paper

NM_012301.4

p.L420V

c.1258T>G

1 paper

NM_012301.4

p.T423A

c.1267A>G

1 paper

NM_012301.4

p.T427I

c.1280C>T

1 paper

NM_012301.4

p.T439S

c.1315A>T

3 papers

NM_012301.4

p.G442D

c.1325G>A

1 paper

NM_012301.4

p.E445Q

c.1333G>C

1 paper

NM_012301.4

p.E445K

c.1333G>A

1 paper

NM_012301.4

p.F449I

c.1345T>A