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.R115*

c.343C>T

Surrounding Variants

1 paper

NM_012301.4

p.L114V

c.340T>G

1 paper

NM_012301.4

p.Q117E

c.349C>G

1 paper

NM_012301.4

p.L112R

c.335T>G

2 papers

NM_012301.4

p.L112P

c.335T>C

1 paper

NM_012301.4

p.L112fs

c.334_335fs

1 paper

NM_012301.4

p.K118K

c.354G>A

1 paper

NM_012301.4

p.G119S

c.355G>A

1 paper

NM_012301.4

p.R109H

c.326G>A

1 paper

NM_012301.4

p.R109C

c.325C>T

1 paper

NM_012301.4

p.R109S

c.325C>A

1 paper

NM_012301.4

p.D122H

c.364G>C

1 paper

NM_012301.4

p.D107N

c.319G>A