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.S1276_L1277delFs

c.3827_3830del4

Surrounding Variants

3 papers

NM_000038.6

p.S1275N

c.3824G>A

2 papers

NM_000038.6

p.S1275T

c.3824G>C

1 paper

NM_000038.6

p.S1275I

c.3824G>T

3 papers

NM_000038.6

p.S1276delFs

c.3826delT

2 papers

NM_000038.6

p.S1275fs

c.3823_3824fs

1 paper

NM_000038.6

p.S1275G

c.3823A>G

1 paper

NM_000038.6

p.C1274*

c.3822T>A

1 paper

NM_000038.6

p.S1276T

c.3826T>A

1 paper

NM_000038.6

p.S1276A

c.3826T>G

1 paper

NM_000038.6

p.S1275delFs

c.3823_3824delAG

10 papers

NM_000038.6

p.S1276*

c.3827C>A

11 papers

NM_000038.6

p.S1276*

c.3827C>G