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

1–12 of 353 variants

4 papers

NM_012301.4

p.R564Q

c.1691G>A

4 papers

NM_012301.4

p.L603R

c.1808T>G

3 papers

NM_012301.4

p.G442D

c.1325G>A

3 papers

NM_012301.4

p.L1033M

c.3097C>A

2 papers

NM_012301.4

p.G39*

c.115G>T

2 papers

NM_012301.4

p.P42delFs

c.126delG

2 papers

NM_012301.4

p.R94W

c.280C>T

2 papers

NM_012301.4

p.L112P

c.335T>C

2 papers

NM_012301.4

p.T137P

c.409A>C

2 papers

NM_012301.4

p.E285K

c.853G>A

2 papers

NM_012301.4

p.Y319F

c.956A>T

2 papers

NM_012301.4

p.R415W

c.1243C>T