Varaico: Literature-Extracted Genetic Variants

APPBP2

68 papers

RefSeq Summary

The protein encoded by this gene interacts with microtubules and is functionally associated with beta-amyloid precursor protein transport and/or processing. The beta-amyloid precursor protein is a cel...

Pfam Domains

TPR_10aa 428–469UCSCTetratricopeptide repeat

TPR_10aa 470–509UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

amyloid beta precursor protein binding protein 2

HGNC Alias Symbols

KIAA0228; Hs.84084; PAT1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006380.5

p.H284N

c.850C>A

Surrounding Variants

1 paper

NM_006380.5

p.S288C

c.863C>G

1 paper

NM_006380.5

p.D293Y

c.877G>T

1 paper

NM_006380.5

p.Q312_A313Splc

c.936+2T>G

1 paper

NM_006380.5

p.V244F

c.730G>T

1 paper

NM_006380.5

p.G239A

c.716G>C

1 paper

NM_006380.5

p.K227fs

c.679_680fs

1 paper

NM_006380.5

p.F217I

c.649T>A

1 paper

NM_006380.5

p.Y209F

c.626A>T

1 paper

NM_006380.5

p.Q202R

c.605A>G

1 paper

NM_006380.5

p.E388*

c.1162G>T

1 paper

NM_006380.5

p.E388K

c.1162G>A

1 paper

NM_006380.5

p.H394H

c.1182T>C