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.R472I

c.1415G>T

Surrounding Variants

1 paper

NM_001353788.2

p.R473C

c.1417C>T

1 paper

NM_001353788.2

p.M475V

c.1423A>G

1 paper

NM_001353788.2

p.P488R

c.1463C>G

1 paper

NM_001353788.2

p.R455H

c.1364G>A

1 paper

NM_001353788.2

p.H502N

c.1504C>A

1 paper

NM_001353788.2

p.T445M

c.1334C>T

2 papers

NM_001353788.2

p.Q436H

c.1308G>C

2 papers

NM_001353788.2

p.Q436H

c.1308G>T

1 paper

NM_001353788.2

p.I433L

c.1297A>C

1 paper

NM_001353788.2

p.D430Y

c.1288G>T

1 paper

NM_001353788.2

p.T425M

c.1274C>T

2 papers

NM_001353788.2

p.F520V

c.1558T>G