Varaico: Literature-Extracted Genetic Variants

APBB1

121 papers

RefSeq Summary

The protein encoded by this gene is a member of the Fe65 protein family. It is an adaptor protein localized in the nucleus. It interacts with the Alzheimer's disease amyloid precursor protein (APP), t...

Pfam Domains

WWaa 255–283UCSCWW domain

PIDaa 370–509UCSCPhosphotyrosine interaction domain (PTB/PID)

PIDaa 543–664UCSCPhosphotyrosine interaction domain (PTB/PID)

Gene Aliases

HGNC Name

amyloid beta precursor protein binding family B member 1

HGNC Previous Symbol

RIR

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001164.5

p.D165G

c.494A>G

Surrounding Variants

1 paper

NM_001164.5

p.D166A

c.497A>C

1 paper

NM_001164.5

p.D163E

c.489T>G

1 paper

NM_001164.5

p.D163E

c.489T>A

3 papers

NM_001164.5

p.E162del1

c.484_485delCTC

2 papers

NM_001164.5

p.E162K

c.484G>A

1 paper

NM_001164.5

p.E169K

c.505G>A

2 papers

NM_001164.5

p.E161G

c.482A>G

1 paper

NM_001164.5

p.E170E

c.510G>A

1 paper

NM_001164.5

p.S175A

c.523T>G

1 paper

NM_001164.5

p.G155A

c.464G>C

1 paper

NM_001164.5

p.G178R

c.532G>C

1 paper

NM_001164.5

p.G178R

c.532G>A