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.V696M

c.2086G>A

Surrounding Variants

1 paper

NM_001353788.2

p.A689D

c.2066C>A

2 papers

NM_001353788.2

p.V708M

c.2122G>A

1 paper

NM_001353788.2

p.Q718*

c.2152C>T

2 papers

NM_001353788.2

p.N722S

c.2165A>G

1 paper

NM_001353788.2

p.E726_I727Splc

c.2179-82T>G

2 papers

NM_001353788.2

p.T659M

c.1976C>T

1 paper

NM_001353788.2

p.S653N

c.1958G>A

1 paper

NM_001353788.2

p.A632T

c.1894G>A

1 paper

NM_001353788.2

p.A607T

c.1819G>A

1 paper

NM_001353788.2

p.G603D

c.1808G>A

1 paper

NM_001353788.2

p.E577K

c.1729G>A

1 paper

NM_001353788.2

p.L571V

c.1711C>G