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

2 papers

NM_001163.4

p.G711A

c.2132G>C

Surrounding Variants

1 paper

NM_001163.4

p.G698W

c.2092G>T

1 paper

NM_001163.4

p.V669A

c.2006T>C

1 paper

NM_001163.4

p.D643N

c.1927G>A

1 paper

NM_001163.4

p.D639N

c.1915G>A

1 paper

NM_001163.4

p.D633Y

c.1897G>T

2 papers

NM_001163.4

p.F608V

c.1822T>G

1 paper

NM_001163.4

p.F592delFs

c.1775delA

1 paper

NM_001163.4

p.Y585F

c.1754A>T

1 paper

NM_001163.4

p.R583delFs

c.1747delT

1 paper

NM_001163.4

p.R583fs

c.1747_1748fs

1 paper

NM_001163.4

p.Q579H

c.1737G>T

1 paper

NM_001163.4

p.Q579H

c.1737G>C