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.T816_N818del3

c.2446_2453del9

Surrounding Variants

1 paper

NM_000038.6

p.T816_N818delFs

c.2448_2454del7

1 paper

NM_000038.6

p.T816insFs

c.2447_2448insC

1 paper

NM_000038.6

p.N815T

c.2444A>C

2 papers

NM_000038.6

p.T816I

c.2447C>T

1 paper

NM_000038.6

p.F814L

c.2442T>A

1 paper

NM_000038.6

p.G817C

c.2449G>T

1 paper

NM_000038.6

p.F814C

c.2441T>G

1 paper

NM_000038.6

p.F814fs

c.2440_2441fs

1 paper

NM_000038.6

p.N813K

c.2439T>A

10 papers

NM_000038.6

p.N813S

c.2438A>G

1 paper

NM_000038.6

p.F814delFs

c.2442delT

1 paper

NM_000038.6

p.N813fs

c.2437_2438fs