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

1–12 of 38 variants

1 paper

NM_006380.5

p.E7Q

c.19G>C

1 paper

NM_006380.5

p.A17G

c.50C>G

1 paper

NM_006380.5

p.I18I

c.54C>A

1 paper

NM_006380.5

p.E37*

c.109G>T

1 paper

NM_006380.5

p.K46_L47Splc

c.138+12455G>A

1 paper

NM_006380.5

p.E59*

c.175G>T

1 paper

NM_006380.5

p.L63L

c.189G>A

1 paper

NM_006380.5

p.A109T

c.325G>A

1 paper

NM_006380.5

p.E117K

c.349G>A

1 paper

NM_006380.5

p.E117A

c.350A>C

1 paper

NM_006380.5

p.I120M

c.360T>G

1 paper

NM_006380.5

p.Q202R

c.605A>G