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

3 papers

NM_000038.6

p.P1442S

c.4324C>T

Surrounding Variants

2 papers

NM_000038.6

p.P1442fs

c.4324_4325fs

2 papers

NM_000038.6

p.P1442fs

c.4324_4325fs

1 paper

NM_000038.6

p.P1442insFs

c.4325_4326insG

1 paper

NM_000038.6

p.P1442R

c.4325C>G

2 papers

NM_000038.6

p.P1442L

c.4325C>T

3 papers

NM_000038.6

p.P1442delFs

c.4326delT

1 paper

NM_000038.6

p.P1441_P1442delFs

c.4323_4326del4

16 papers

NM_000038.6

p.P1442P

c.4326T>A

6 papers

NM_000038.6

p.P1443delFs

c.4327delC

2 papers

NM_000038.6

p.P1443T

c.4327C>A

1 paper

NM_000038.6

p.P1441_P1443insFs

c.4323_4327dup5

6 papers

NM_000038.6

p.P1443fs

c.4327_4328fs