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.R130C

c.388C>T

Surrounding Variants

1 paper

NM_012301.4

p.R130G

c.388C>G

1 paper

NM_012301.4

p.I128T

c.383T>C

1 paper

NM_012301.4

p.I128N

c.383T>A

1 paper

NM_012301.4

p.Q127*

c.379C>T

1 paper

NM_012301.4

p.Q127K

c.379C>A

1 paper

NM_012301.4

p.Y134F

c.401A>T

1 paper

NM_012301.4

p.Y134insFs

c.401dupA

1 paper

NM_012301.4

p.L135I

c.403C>A

1 paper

NM_012301.4

p.L135H

c.404T>A

1 paper

NM_012301.4

p.E124G

c.371A>G

1 paper

NM_012301.4

p.R136C

c.406C>T

1 paper

NM_012301.4

p.H123Q

c.369T>G