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

3 papers

NM_000038.6

p.R141Splc

c.423-11A>G

Surrounding Variants

4 papers

NM_000038.6

p.R141Splc

c.423-12A>G

1 paper

NM_000038.6

p.R141Splc

c.423-9A>C

2 papers

NM_000038.6

p.R141Splc

c.423-9A>G

1 paper

NM_000038.6

p.R141Splc

c.423-9A>T

6 papers

NM_000038.6

p.R141Splc

c.423-8A>G

1 paper

NM_000038.6

p.R141Splc

c.423-8A>T

2 papers

NM_000038.6

p.R141Splc

c.423-7A>G

3 papers

NM_000038.6

p.R141Splc

c.423-6A>G

3 papers

NM_000038.6

p.R141Splc

c.423-16A>T

5 papers

NM_000038.6

p.R141Splc

c.423-5A>G

1 paper

NM_000038.6

p.R141Splc

c.423-17T>A

1 paper

NM_000038.6

p.R141Splc

c.423-4A>G