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.P1140A

c.3418C>G

Surrounding Variants

2 papers

NM_000038.6

p.P1140fs

c.3418_3419fs

1 paper

NM_000038.6

p.P1140L

c.3419C>T

1 paper

NM_000038.6

p.K1139K

c.3417G>A

5 papers

NM_000038.6

p.P1140delFs

c.3418delC

1 paper

NM_000038.6

p.T1141S

c.3421A>T

1 paper

NM_000038.6

p.K1139delFs

c.3416_3417delAG

1 paper

NM_000038.6

p.T1141I

c.3422C>T

1 paper

NM_000038.6

p.K1139delFs

c.3416delA

1 paper

NM_000038.6

p.D1138_K1139delFs

c.3414_3417del4

1 paper

NM_000038.6

p.T1141T

c.3423C>A

1 paper

NM_000038.6

p.N1142H

c.3424A>C

1 paper

NM_000038.6

p.N1142Y

c.3424A>T