Varaico: Literature-Extracted Genetic Variants

APBA1

147 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 461–618UCSCPhosphotyrosine interaction domain (PTB/PID)

PDZaa 656–740UCSCPDZ domain

PDZaa 747–820UCSCPDZ domain

Gene Aliases

HGNC Name

amyloid beta precursor protein binding family A member 1

HGNC Previous Symbol

MINT1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001163.4

p.G321fs

c.961_962fs

Surrounding Variants

1 paper

NM_001163.4

p.G321insFs

c.961_962ins11

1 paper

NM_001163.4

p.A320S

c.958G>T

1 paper

NM_001163.4

p.Q323P

c.968A>C

1 paper

NM_001163.4

p.P328S

c.982C>T

1 paper

NM_001163.4

p.P328L

c.983C>T

1 paper

NM_001163.4

p.D312H

c.934G>C

1 paper

NM_001163.4

p.D312N

c.934G>A

1 paper

NM_001163.4

p.G309R

c.925G>C

1 paper

NM_001163.4

p.P303S

c.907C>T

1 paper

NM_001163.4

p.R302C

c.904C>T

1 paper

NM_001163.4

p.E341K

c.1021G>A

1 paper

NM_001163.4

p.Q279H

c.837G>T