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.L771I

c.2311C>A

Surrounding Variants

1 paper

NM_001163.4

p.R773L

c.2318G>T

1 paper

NM_001163.4

p.I767_I768Splc

c.2302-7C>T

1 paper

NM_001163.4

p.V784L

c.2350G>T

1 paper

NM_001163.4

p.V784L

c.2350G>C

1 paper

NM_001163.4

p.V796I

c.2386G>A

1 paper

NM_001163.4

p.V797E

c.2390T>A

1 paper

NM_001163.4

p.A798T

c.2392G>A

2 papers

NM_001163.4

p.V805I

c.2413G>A

1 paper

NM_001163.4

p.G813R

c.2437G>C

1 paper

NM_001163.4

p.G813R

c.2437G>A

1 paper

NM_001163.4

p.M820V

c.2458A>G

1 paper

NM_001163.4

p.A823A

c.2469G>A