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.Q408E

c.1222C>G

Surrounding Variants

1 paper

NM_001353788.2

p.A410T

c.1228G>A

1 paper

NM_001353788.2

p.K412E

c.1234A>G

1 paper

NM_001353788.2

p.K412*

c.1234A>T

1 paper

NM_001353788.2

p.A417V

c.1250C>T

1 paper

NM_001353788.2

p.K405E

c.1213A>G

1 paper

NM_001353788.2

p.S402C

c.1204A>T

1 paper

NM_001353788.2

p.A397V

c.1190C>T

1 paper

NM_001353788.2

p.A397T

c.1189G>A

1 paper

NM_001353788.2

p.G369R

c.1105G>A

1 paper

NM_001353788.2

p.G369R

c.1105G>C

1 paper

NM_001353788.2

p.D368N

c.1102G>A

1 paper

NM_001353788.2

p.E362K

c.1084G>A