Varaico: Literature-Extracted Genetic Variants

APBA3

55 papers

RefSeq Summary

The protein encoded by this gene is a member of the X11 protein family. It is an adapter protein that interacts with the Alzheimer's disease amyloid precursor protein. This gene product is believed to...

Pfam Domains

PIDaa 221–359UCSCPhosphotyrosine interaction domain (PTB/PID)

PDZaa 394–478UCSCPDZ domain

PDZaa 485–558UCSCPDZ domain

Gene Aliases

HGNC Name

amyloid beta precursor protein binding family A member 3

HGNC Alias Symbols

X11L2; mint3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004886.4

p.R310W

c.928C>T

Surrounding Variants

1 paper

NM_004886.4

p.R310Q

c.929G>A

1 paper

NM_004886.4

p.A308V

c.923C>T

1 paper

NM_004886.4

p.L304L

c.910C>T

1 paper

NM_004886.4

p.P316L

c.947C>T

1 paper

NM_004886.4

p.I300I

c.900C>T

1 paper

NM_004886.4

p.Y296*

c.888C>G

1 paper

NM_004886.4

p.Y296*

c.888C>A

1 paper

NM_004886.4

p.I294I

c.882C>T

1 paper

NM_004886.4

p.A290G

c.869C>G

1 paper

NM_004886.4

p.A335A

c.1005G>A

2 papers

NM_004886.4

p.K276T

c.827A>C

1 paper

NM_004886.4

p.E265D

c.795G>T