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.A1793V

c.5378C>T

Surrounding Variants

3 papers

NM_000038.6

p.A1793G

c.5378C>G

3 papers

NM_000038.6

p.D1794N

c.5380G>A

8 papers

NM_000038.6

p.D1794_S1795insFs

c.5382_5383insC

1 paper

NM_000038.6

p.N1792_A1793insFs

c.5376_5377ins4

3 papers

NM_000038.6

p.N1792fs

c.5374_5375fs

1 paper

NM_000038.6

p.N1792fs

c.5374_5375fs

2 papers

NM_000038.6

p.S1795*

c.5384C>A

2 papers

NM_000038.6

p.S1795*

c.5384C>G

1 paper

NM_000038.6

p.N1797delFs

c.5390delA

1 paper

NM_000038.6

p.S1795_K1796insFs

c.5385_5386insC

1 paper

NM_000038.6

p.R1790T

c.5369G>C

3 papers

NM_000038.6

p.R1790insFs

c.5370dupA