Varaico: Literature-Extracted Genetic Variants

APC

6,282 papers

RefSeq Summary

This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional acti...

Pfam Domains

APC_N_CCaa 4–55UCSCCoiled-coil N-terminus of APC, dimerisation domain

Suppressor_APCaa 131–207UCSCAdenomatous polyposis coli tumour suppressor protein

APC_repaa 393–466UCSCAdenomatous polyposis coli (APC) repeat

Armaa 512–553UCSCArmadillo/beta-catenin-like repeat

Armaa 649–689UCSCArmadillo/beta-catenin-like repeat

Armaa 691–731UCSCArmadillo/beta-catenin-like repeat

Gene Aliases

HGNC Name

APC regulator of Wnt signaling pathway

HGNC Alias Symbols

DP2; DP3; DP2.5; PPP1R46

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000038.6

p.Y133S

c.398A>C

Surrounding Variants

4 papers

NM_000038.6

p.Y133C

c.398A>G

1 paper

NM_000038.6

p.L134delFs

c.401delT

2 papers

NM_000038.6

p.Y133H

c.397T>C

3 papers

NM_000038.6

p.Y133D

c.397T>G

1 paper

NM_000038.6

p.Y133insFs

c.398_399insA

1 paper

NM_000038.6

p.Y133_L134insGG

c.397_401ins6

1 paper

NM_000038.6

p.G132G

c.396A>C

1 paper

NM_000038.6

p.G132G

c.396A>G

1 paper

NM_000038.6

p.G132E

c.395G>A

3 papers

NM_000038.6

p.G132A

c.395G>C

2 papers

NM_000038.6

p.G132V

c.395G>T

1 paper

NM_001127511.3

p.G142_Y143delFs

c.426_427delAT