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.K311_V312Splc

c.934-1G>A

Surrounding Variants

1 paper

NM_000038.6

p.K311_V312Splc

c.934-1G>C

2 papers

NM_000038.6

p.K311_V312Splc

c.934-2A>C

2 papers

NM_000038.6

p.K311_V312Splc

c.934-2A>G

1 paper

NM_000038.6

p.V312M

c.934G>A

3 papers

NM_000038.6

p.V312fs

c.934_935fs

2 papers

NM_000038.6

p.V312V

c.936G>A

1 paper

NM_000038.6

p.V312V

c.936G>C

2 papers

NM_000038.6

p.E313delFs

c.937_938delGA

1 paper

NM_000038.6

p.E313_S320del8

c.937_959del24

1 paper

NM_000038.6

p.M314insFs

c.940dupA

1 paper

NM_000038.6

p.M314delFs

c.940delA

3 papers

NM_000038.6

p.E313fs

c.937_938fs