Varaico: Literature-Extracted Genetic Variants

Gene:APBB3
Variant:p.K117delFs

APBB3

41 papers

RefSeq Summary

The protein encoded by this gene is a member of the APBB protein family. It is found in the cytoplasm and binds to the intracellular domain of the Alzheimer's disease beta-amyloid precursor protein (A...

Pfam Domains

WWaa 31–59UCSCWW domain
PIDaa 119–257UCSCPhosphotyrosine interaction domain (PTB/PID)

Gene Aliases

HGNC Name

amyloid beta precursor protein binding family B member 3

HGNC Alias Symbol

FE65L2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_133173.3
p.K117delFs
c.350delT
Surrounding Variants
1 paper
NM_133173.3
p.R122H
c.365G>A
1 paper
NM_133173.3
p.P136L
c.407C>T
1 paper
NM_133173.3
p.A151V
c.452C>T
1 paper
NM_133173.3
p.G165D
c.494G>A
1 paper
NM_133173.3
p.N169S
c.506A>G
1 paper
NM_133173.3
p.A178V
c.533C>T
1 paper
NM_133173.3
p.P184L
c.551C>T
1 paper
NM_133173.3
p.R199H
c.596G>A
1 paper
NM_133173.3
p.I198delFs
c.594delG
1 paper
NM_133173.3
p.W201L
c.602G>T
1 paper
NM_133173.3
p.G202fs
c.604_605fs
1 paper
NM_133173.3
p.R209Splc
c.626+3G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."