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.R214H

c.641G>A

Surrounding Variants

1 paper

NM_001353788.2

p.R214C

c.640C>T

1 paper

NM_001353788.2

p.D216N

c.646G>A

1 paper

NM_001353788.2

p.A207T

c.619G>A

1 paper

NM_001353788.2

p.A248V

c.743C>T

2 papers

NM_001353788.2

p.P168L

c.503C>T

1 paper

NM_001353788.2

p.E263D

c.789G>C

1 paper

NM_001353788.2

p.E263D

c.789G>T

1 paper

NM_001353788.2

p.A154A

c.462T>C

2 papers

NM_001353788.2

p.H150D

c.448C>G

1 paper

NM_001353788.2

p.A145A

c.435G>A

1 paper

NM_001353788.2

p.A145V

c.434C>T

1 paper

NM_001353788.2

p.S283L

c.848C>T