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

44 papers

NM_000038.6

p.E1322*

c.3964G>T

Surrounding Variants

3 papers

NM_000038.6

p.E1322K

c.3964G>A

3 papers

NM_000038.6

p.E1322fs

c.3964_3965fs

1 paper

NM_000038.6

p.E1322fs

c.3964_3965fs

2 papers

NM_000038.6

p.S1321R

c.3963C>A

2 papers

NM_000038.6

p.S1321R

c.3963C>G

1 paper

NM_000038.6

p.S1321S

c.3963C>T

1 paper

NM_000038.6

p.E1322delFs

c.3964delG

2 papers

NM_000038.6

p.S1321N

c.3962G>A

2 papers

NM_000038.6

p.S1321delFs

c.3963delC

4 papers

NM_000038.6

p.S1321fs

c.3961_3962fs

2 papers

NM_000038.6

p.S1321R

c.3961A>C

1 paper

NM_000038.6

p.S1321G

c.3961A>G