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

2 papers

NM_000038.6

p.V967delFs

c.2900delT

Surrounding Variants

1 paper

NM_000038.6

p.V967delFs

c.2900_2901delTC

2 papers

NM_000038.6

p.S966R

c.2898T>A

1 paper

NM_000038.6

p.S966S

c.2898T>C

1 paper

NM_000038.6

p.V967A

c.2900T>C

1 paper

NM_000038.6

p.S966R

c.2898T>G

2 papers

NM_000038.6

p.V967V

c.2901C>A

2 papers

NM_000038.6

p.S966N

c.2897G>A

1 paper

NM_000038.6

p.S966delFs

c.2898delT

1 paper

NM_000038.6

p.S966insFs

c.2897dupG

1 paper

NM_000038.6

p.S966R

c.2896A>C

3 papers

NM_000038.6

p.S966G

c.2896A>G

1 paper

NM_000038.6

p.S966fs

c.2896_2897fs