Varaico: Literature-Extracted Genetic Variants

APBB2

59 papers

RefSeq Summary

The protein encoded by this gene interacts with the cytoplasmic domains of amyloid beta (A4) precursor protein and amyloid beta (A4) precursor-like protein 2. This protein contains two phosphotyrosine...

Pfam Domains

WWaa 292–320UCSCWW domain

PIDaa 398–534UCSCPhosphotyrosine interaction domain (PTB/PID)

PIDaa 569–691UCSCPhosphotyrosine interaction domain (PTB/PID)

Gene Aliases

HGNC Name

amyloid beta precursor protein binding family B member 2

HGNC Alias Symbols

FE65L; FE65L1; MGC35575

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004307.2

p.T58S

c.173C>G

Surrounding Variants

1 paper

NM_004307.2

p.K65R

c.194A>G

1 paper

NM_004307.2

p.H45Q

c.135C>G

1 paper

NM_004307.2

p.H45Q

c.135C>A

2 papers

NM_004307.2

p.N40D

c.118A>G

1 paper

NM_004307.2

p.A77T

c.229G>A

1 paper

NM_004307.2

p.Q87L

c.260A>T

1 paper

NM_004307.2

p.Q87R

c.260A>G

1 paper

NM_004307.2

p.G22*

c.64G>T

1 paper

NM_004307.2

p.S20G

c.58A>G

1 paper

NM_004307.2

p.E112K

c.334G>A

1 paper

NM_004307.2

p.Y164H

c.490T>C

1 paper

NM_004307.2

p.Y164S

c.491A>C