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

1–12 of 81 variants

5 papers

NM_001353788.2

p.S55N

c.164G>A

2 papers

NM_001353788.2

p.R4Q

c.11G>A

2 papers

NM_001353788.2

p.V9M

c.25G>A

2 papers

NM_001353788.2

p.A137V

c.410C>T

2 papers

NM_001353788.2

p.H150D

c.448C>G

2 papers

NM_001353788.2

p.P168L

c.503C>T

2 papers

NM_001353788.2

p.Q436H

c.1308G>C

2 papers

NM_001353788.2

p.Q436H

c.1308G>T

2 papers

NM_001353788.2

p.F520V

c.1558T>G

2 papers

NM_001353788.2

p.E542K

c.1624G>A

2 papers

NM_001353788.2

p.T659M

c.1976C>T

2 papers

NM_001353788.2

p.V708M

c.2122G>A