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.C1289_N1290del2

c.3865_3869del6

Surrounding Variants

1 paper

NM_000038.6

p.C1289delFs

c.3865delT

2 papers

NM_000038.6

p.C1289_Q1291del3

c.3865_3872del9

1 paper

NM_000038.6

p.G1288E

c.3863G>A

1 paper

NM_000038.6

p.C1289_N1290delFs

c.3866_3870del5

1 paper

NM_000038.6

p.C1289G

c.3865T>G

2 papers

NM_000038.6

p.C1289Y

c.3866G>A

1 paper

NM_000038.6

p.G1288R

c.3862G>A

1 paper

NM_000038.6

p.C1289insFs

c.3866_3867insA

13 papers

NM_000038.6

p.G1288*

c.3862G>T

4 papers

NM_000038.6

p.C1289_Q1291delFs

c.3867_3871del5

1 paper

NM_000038.6

p.G1288delFs

c.3862delG

1 paper

NM_000038.6

p.G1288_C1289delFs

c.3862_3866del5