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.A1296V

c.3887C>T

Surrounding Variants

1 paper

NM_000038.6

p.A1296E

c.3887C>A

1 paper

NM_000038.6

p.A1296delFs

c.3888delA

2 papers

NM_000038.6

p.D1297delFs

c.3889delG

3 papers

NM_000038.6

p.A1296T

c.3886G>A

4 papers

NM_000038.6

p.A1296fs

c.3886_3887fs

2 papers

NM_000038.6

p.A1296fs

c.3886_3887fs

3 papers

NM_000038.6

p.D1297fs

c.3889_3890fs

2 papers

NM_000038.6

p.D1297_S1298insT

c.3889_3893ins3

1 paper

NM_000038.6

p.D1297fs

c.3889_3890fs

1 paper

NM_000038.6

p.S1298insFs

c.3892dupT

1 paper

NM_000038.6

p.D1297A

c.3890A>C

1 paper

NM_000038.6

p.E1295Fs

c.3884delinsCTTFs