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.P2489A

c.7465C>G

Surrounding Variants

1 paper

NM_000038.6

p.L2488insFs

c.7463_7464insG

6 papers

NM_000038.6

p.D2490N

c.7468G>A

2 papers

NM_000038.6

p.D2490H

c.7468G>C

1 paper

NM_000038.6

p.S2487C

c.7460C>G

1 paper

NM_000038.6

p.S2487F

c.7460C>T

2 papers

NM_000038.6

p.M2491V

c.7471A>G

4 papers

NM_000038.6

p.M2491T

c.7472T>C

1 paper

NM_000038.6

p.M2491insFs

c.7472_7473insC

1 paper

NM_000038.6

p.P2486L

c.7457C>T

1 paper

NM_000038.6

p.M2491I

c.7473G>A

1 paper

NM_000038.6

p.M2491I

c.7473G>C

1 paper

NM_000038.6

p.M2491I

c.7473G>T