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

8 papers

NM_000038.6

p.S1811L

c.5432C>T

Surrounding Variants

1 paper

NM_000038.6

p.K1812insFs

c.5435dupA

1 paper

NM_000038.6

p.K1812E

c.5434A>G

NM_001127511.3

p.K1794E

c.5380A>G

1 paper

NM_000038.6

p.K1812fs

c.5434_5435fs

2 papers

NM_000038.6

p.D1810E

c.5430T>A

2 papers

NM_000038.6

p.D1810E

c.5430T>G

2 papers

NM_000038.6

p.D1810V

c.5429A>T

2 papers

NM_000038.6

p.D1810H

c.5428G>C

5 papers

NM_000038.6

p.D1810Y

c.5428G>T

1 paper

NM_000038.6

p.K1809T

c.5426A>C

1 paper

NM_000038.6

p.K1813R

c.5438A>G

1 paper

NM_000038.6

p.K1813N

c.5439A>C

1 paper

NM_000038.6

p.N1808K

c.5424C>A