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.D221D

c.663C>T

Surrounding Variants

1 paper

NM_001163.4

p.E217Q

c.649G>C

2 papers

NM_001163.4

p.E229K

c.685G>A

1 paper

NM_001163.4

p.D211V

c.632A>T

1 paper

NM_001163.4

p.R210L

c.629G>T

1 paper

NM_001163.4

p.A233V

c.698C>T

1 paper

NM_001163.4

p.R234W

c.700C>T

1 paper

NM_001163.4

p.L207P

c.620T>C

1 paper

NM_001163.4

p.D243G

c.728A>G

1 paper

NM_001163.4

p.G244S

c.730G>A

1 paper

NM_001163.4

p.H196Y

c.586C>T

3 papers

NM_001163.4

p.S184A

c.550T>G

1 paper

NM_001163.4

p.P259R

c.776C>G