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.S227*

c.680C>A

Surrounding Variants

1 paper

NM_004307.2

p.S227*

c.680C>G

1 paper

NM_004307.2

p.S228T

c.682T>A

1 paper

NM_004307.2

p.V223E

c.668T>A

1 paper

NM_004307.2

p.G221D

c.662G>A

1 paper

NM_004307.2

p.S190Y

c.569C>A

1 paper

NM_004307.2

p.Q267H

c.801A>T

1 paper

NM_004307.2

p.Q267H

c.801A>C

1 paper

NM_004307.2

p.H183Y

c.547C>T

1 paper

NM_004307.2

p.H182H

c.546C>T

4 papers

NM_004307.2

p.R179Q

c.536G>A

1 paper

NM_004307.2

p.E169G

c.506A>G

1 paper

NM_004307.2

p.Y165H

c.493T>C