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.T310I

c.929C>T

Surrounding Variants

1 paper

NM_000038.6

p.T310S

c.929C>G

2 papers

NM_000038.6

p.T310S

c.928A>T

1 paper

NM_000038.6

p.T310delFs

c.930delC

1 paper

NM_000038.6

p.T310T

c.930C>G

1 paper

NM_000038.6

p.T310T

c.930C>T

1 paper

NM_000038.6

p.K311fs

c.931_932fs

1 paper

NM_000038.6

p.G309G

c.927A>G

2 papers

NM_000038.6

p.K311*

c.931A>T

1 paper

NM_000038.6

p.K311R

c.932A>G

2 papers

NM_000038.6

p.G309E

c.926G>A

1 paper

NM_000038.6

p.G309A

c.926G>C

2 papers

NM_000038.6

p.K311K

c.933G>A