Varaico: Literature-Extracted Genetic Variants

APBA2

91 papers

RefSeq Summary

The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP ...

Pfam Domains

PIDaa 372–530UCSCPhosphotyrosine interaction domain (PTB/PID)

PDZaa 568–652UCSCPDZ domain

PDZaa 659–732UCSCPDZ domain

Gene Aliases

HGNC Name

amyloid beta precursor protein binding family A member 2

HGNC Previous Symbols

X11L; MINT2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001353788.2

p.C116F

c.347G>T

Surrounding Variants

1 paper

NM_001353788.2

p.P105L

c.314C>T

2 papers

NM_001353788.2

p.A137V

c.410C>T

1 paper

NM_001353788.2

p.A137A

c.411G>A

1 paper

NM_001353788.2

p.E94*

c.280G>T

1 paper

NM_001353788.2

p.G89D

c.266G>A

1 paper

NM_001353788.2

p.S144L

c.431C>T

1 paper

NM_001353788.2

p.E88K

c.262G>A

1 paper

NM_001353788.2

p.A145V

c.434C>T

1 paper

NM_001353788.2

p.A145A

c.435G>A

1 paper

NM_001353788.2

p.E83K

c.247G>A

2 papers

NM_001353788.2

p.H150D

c.448C>G

1 paper

NM_001353788.2

p.S81C

c.242C>G