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.D539A

c.1616A>C

Surrounding Variants

1 paper

NM_001163.4

p.M537V

c.1609A>G

1 paper

NM_001163.4

p.H540_L542delFs

c.1618_1624del7

1 paper

NM_001163.4

p.D550Y

c.1648G>T

1 paper

NM_001163.4

p.R560C

c.1678C>T

1 paper

NM_001163.4

p.R560H

c.1679G>A

1 paper

NM_001163.4

p.Q579H

c.1737G>T

1 paper

NM_001163.4

p.Q579H

c.1737G>C

1 paper

NM_001163.4

p.R583fs

c.1747_1748fs

1 paper

NM_001163.4

p.R583delFs

c.1747delT

1 paper

NM_001163.4

p.Y585F

c.1754A>T

1 paper

NM_001163.4

p.F592delFs

c.1775delA

1 paper

NM_001163.4

p.I521M

c.1563T>G