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.T1301insFs

c.3901_3902insC

Surrounding Variants

9 papers

NM_000038.6

p.T1301fs

c.3901_3902fs

4 papers

NM_000038.6

p.T1301S

c.3901A>T

6 papers

NM_000038.6

p.L1302delFs

c.3904delC

1 paper

NM_000038.6

p.T1301fs

c.3901_3902fs

5 papers

NM_000038.6

p.T1301S

c.3902C>G

1 paper

NM_000038.6

p.T1301insFs

c.3901_3902insA

1 paper

NM_000038.6

p.T1301delFs

c.3901delA

1 paper

NM_000038.6

p.N1300S

c.3899A>G

1 paper

NM_000038.6

p.N1300delFs

c.3900delT

6 papers

NM_000038.6

p.N1300fs

c.3898_3899fs

2 papers

NM_000038.6

p.N1300fs

c.3898_3899fs

7 papers

NM_000038.6

p.L1302fs

c.3904_3905fs