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.Q2372*

c.7114C>T

Surrounding Variants

1 paper

NM_000038.6

p.R2371I

c.7112G>T

1 paper

NM_000038.6

p.M2373_S2374del2

c.7117_7121del6

1 paper

NM_000038.6

p.M2373L

c.7117A>C

1 paper

NM_000038.6

p.M2373L

c.7117A>T

1 paper

NM_000038.6

p.G2370D

c.7109G>A

3 papers

NM_000038.6

p.G2370V

c.7109G>T

1 paper

NM_000038.6

p.G2370S

c.7108G>A

1 paper

NM_000038.6

p.S2368S

c.7104T>A

1 paper

NM_000038.6

p.Q2375H

c.7125A>C

1 paper

NM_000038.6

p.Q2375H

c.7125A>T

3 papers

NM_000038.6

p.S2368F

c.7103C>T

1 paper

NM_000038.6

p.T2367I

c.7100C>T