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

2 papers

NM_000038.6

p.D434E

c.1302C>G

Surrounding Variants

3 papers

NM_001127511.3

p.D416E

c.1248C>A

NM_000038.6

p.D434E

c.1302C>A

2 papers

NM_000038.6

p.N436insFs

c.1307dupA

4 papers

NM_000038.6

p.K435delFs

c.1303delA

2 papers

NM_000038.6

p.K435fs

c.1303_1304fs

1 paper

NM_000038.6

p.K435Q

c.1303A>C

1 paper

NM_000038.6

p.K435E

c.1303A>G

1 paper

NM_000038.6

p.K435R

c.1304A>G

1 paper

NM_000038.6

p.D434N

c.1300G>A

1 paper

NM_000038.6

p.D434insFs

c.1300_1301insA

1 paper

NM_000038.6

p.K435K

c.1305A>G

1 paper

NM_000038.6

p.K435N

c.1305A>T

1 paper

NM_000038.6

p.N436_P437delFs

c.1306_1309del4