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.K430E

c.1288A>G

Surrounding Variants

1 paper

NM_006380.5

p.N425H

c.1273A>C

1 paper

NM_006380.5

p.R437R

c.1311A>G

1 paper

NM_006380.5

p.Y439insFs

c.1316_1317insTT

1 paper

NM_006380.5

p.K446E

c.1336A>G

1 paper

NM_006380.5

p.K446_E447Splc

c.1338+1G>A

1 paper

NM_006380.5

p.H394H

c.1182T>C

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.E469K

c.1405G>A

1 paper

NM_006380.5

p.Y488H

c.1462T>C

1 paper

NM_006380.5

p.G502Splc

c.1505-7G>T

1 paper

NM_006380.5

p.S511R

c.1531A>C