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.V830V

c.2490G>C

Surrounding Variants

1 paper

NM_000038.6

p.L831_P832delFs

c.2491_2494del4

1 paper

NM_000038.6

p.V830A

c.2489T>C

1 paper

NM_000038.6

p.L831fs

c.2491_2492fs

2 papers

NM_000038.6

p.V830M

c.2488G>A

1 paper

NM_000038.6

p.V830fs

c.2488_2489fs

1 paper

NM_000038.6

p.V830insFs

c.2488_2489insTC

1 paper

NM_000038.6

p.V830delFs

c.2489delT

2 papers

NM_000038.6

p.V830fs

c.2488_2489fs

7 papers

NM_000038.6

p.L831insFs

c.2493dupA

1 paper

NM_000038.6

p.T829T

c.2487A>T

3 papers

NM_000038.6

p.P832delFs

c.2496delC

1 paper

NM_000038.6

p.V830_S834del5

c.2488_2501del15