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

15 papers

NM_000038.6

p.E1461*

c.4381G>T

Surrounding Variants

2 papers

NM_000038.6

p.E1461K

c.4381G>A

2 papers

NM_000038.6

p.E1461fs

c.4381_4382fs

5 papers

NM_000038.6

p.K1462delFs

c.4385delA

NM_001127511.3

p.K1444delFs

c.4331delA

8 papers

NM_000038.6

p.E1461delFs

c.4382_4383delAA

1 paper

NM_000038.6

p.E1461fs

c.4381_4382fs

1 paper

NM_000038.6

p.K1462_R1463delFs

c.4384_4387del4

2 papers

NM_000038.6

p.K1462_R1463del2

c.4384_4388del6

1 paper

NM_000038.6

p.E1461insFs

c.4381_4382insG

1 paper

NM_000038.6

p.E1461_R1463insFs

c.4383_4387dup5

1 paper

NM_000038.6

p.E1461_R1463delFs

c.4383_4387del5

1 paper

NM_000038.6

p.K1462del1

c.4384_4385delAAG

1 paper

NM_000038.6

p.A1460_E1461insFs

c.4380_4381insTT