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.K581fs

c.1741_1742fs

Surrounding Variants

7 papers

NM_000038.6

p.K581fs

c.1741_1742fs

5 papers

NM_000038.6

p.K581R

c.1742A>G

1 paper

NM_000038.6

p.K580R

c.1739A>G

1 paper

NM_000038.6

p.K581K

c.1743G>A

4 papers

NM_000038.6

p.K581N

c.1743G>C

4 papers

NM_000038.6

p.K581N

c.1743G>T

2 papers

NM_000038.6

p.K580fs

c.1738_1739fs

4 papers

NM_000038.6

p.K580*

c.1738A>T

10 papers

NM_000038.6

p.K581_E582Splc

c.1743+1G>A

1 paper

NM_000038.6

p.K581_E582Splc

c.1743+1G>C

2 papers

NM_000038.6

p.K581_E582Splc

c.1743+2T>A

1 paper

NM_000038.6

p.K581_E582Splc

c.1743+2T>C