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.E139G

c.416A>G

Surrounding Variants

1 paper

NM_001163.4

p.A133P

c.397G>C

1 paper

NM_001163.4

p.T130M

c.389C>T

1 paper

NM_001163.4

p.H151P

c.452A>C

1 paper

NM_001163.4

p.R123L

c.368G>T

1 paper

NM_001163.4

p.R123Q

c.368G>A

1 paper

NM_001163.4

p.A119S

c.355G>T

1 paper

NM_001163.4

p.E156_E159delFs

c.467_476del10

2 papers

NM_001163.4

p.M161L

c.481A>T

2 papers

NM_001163.4

p.M161L

c.481A>C

1 paper

NM_001163.4

p.A163A

c.489G>T

1 paper

NM_001163.4

p.P112A

c.334C>G

1 paper

NM_001163.4

p.G167D

c.500G>A