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.M2713I

c.8139G>A

Surrounding Variants

1 paper

NM_000038.6

p.M2713I

c.8139G>C

1 paper

NM_000038.6

p.M2713I

c.8139G>T

1 paper

NM_000038.6

p.R2714S

c.8140C>A

12 papers

NM_000038.6

p.R2714C

c.8140C>T

1 paper

NM_000038.6

p.M2713T

c.8138T>C

1 paper

NM_000038.6

p.M2713V

c.8137A>G

8 papers

NM_000038.6

p.R2714H

c.8141G>A

1 paper

NM_000038.6

p.R2714L

c.8141G>T

1 paper

NM_000038.6

p.T2715_V2716ins5

c.8143_8147ins15

1 paper

NM_000038.6

p.T2715A

c.8143A>G

2 papers

NM_000038.6

p.P2712L

c.8135C>T

2 papers

NM_000038.6

p.P2712delins

c.8135_8136delinsAA