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.P42S

c.124C>T

Surrounding Variants

1 paper

NM_012301.4

p.P42T

c.124C>A

1 paper

NM_012301.4

p.F41F

c.123C>T

1 paper

NM_012301.4

p.P42R

c.125C>G

2 papers

NM_012301.4

p.P42delFs

c.126delG

2 papers

NM_012301.4

p.G39*

c.115G>T

1 paper

NM_012301.4

p.G45E

c.134G>A

1 paper

NM_012301.4

p.E37*

c.109G>T

1 paper

NM_012301.4

p.G35fs

c.103_104fs

1 paper

NM_012301.4

p.K48insFs

c.143_144ins10

1 paper

NM_012301.4

p.G34R

c.100G>C

1 paper

NM_012301.4

p.G34R

c.100G>A

1 paper

NM_012301.4

p.G29insFs

c.86dupG