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.E425fs

c.1273_1274fs

Surrounding Variants

4 papers

NM_000038.6

p.E425K

c.1273G>A

3 papers

NM_000038.6

p.E425*

c.1273G>T

1 paper

NM_000038.6

p.E425A

c.1274A>C

1 paper

NM_000038.6

p.E425G

c.1274A>G

1 paper

NM_000038.6

p.E425_A426del2

c.1273_1277del6

1 paper

NM_000038.6

p.Q424P

c.1271A>C

1 paper

NM_000038.6

p.E425E

c.1275A>G

3 papers

NM_000038.6

p.A426_H427del2

c.1276_1280del6

1 paper

NM_000038.6

p.Q424insFs

c.1271dupA

5 papers

NM_000038.6

p.Q424*

c.1270C>T

1 paper

NM_000038.6

p.Q424fs

c.1270_1271fs

1 paper

NM_000038.6

p.Q424_E425delFs

c.1272_1275del4