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.E15A

c.44A>C

Surrounding Variants

1 paper

NM_001163.4

p.A16V

c.47C>T

1 paper

NM_001163.4

p.V12L

c.34G>T

1 paper

NM_001163.4

p.G19R

c.55G>A

1 paper

NM_001163.4

p.G19A

c.56G>C

1 paper

NM_001163.4

p.G19E

c.56G>A

1 paper

NM_001163.4

p.E11A

c.32A>C

1 paper

NM_001163.4

p.N22H

c.64A>C

1 paper

NM_001163.4

p.E23K

c.67G>A

1 paper

NM_001163.4

p.G6R

c.16G>C

1 paper

NM_001163.4

p.G6R

c.16G>A

1 paper

NM_001163.4

p.E5E

c.15G>A

1 paper

NM_001163.4

p.E5Q

c.13G>C