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.P1711fs

c.5131_5132fs

Surrounding Variants

1 paper

NM_000038.6

p.P1711delFs

c.5132delC

1 paper

NM_000038.6

p.I1710T

c.5129T>C

1 paper

NM_000038.6

p.I1710V

c.5128A>G

2 papers

NM_000038.6

p.E1712K

c.5134G>A

1 paper

NM_000038.6

p.E1712G

c.5135A>G

1 paper

NM_000038.6

p.I1710insFs

c.5128_5129insA

1 paper

NM_000038.6

p.L1713F

c.5139G>C

1 paper

NM_000038.6

p.L1713F

c.5139G>T

19 papers

NM_000038.6

p.D1714N

c.5140G>A

2 papers

NM_000038.6

p.D1714Y

c.5140G>T

1 paper

NM_000038.6

p.D1714G

c.5141A>G

1 paper

NM_000038.6

p.D1714V

c.5141A>T