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.E893_V894insFs

c.2679_2680insC

Surrounding Variants

1 paper

NM_000038.6

p.E893A

c.2678A>C

2 papers

NM_000038.6

p.E893V

c.2678A>T

3 papers

NM_000038.6

p.V894M

c.2680G>A

1 paper

NM_000038.6

p.V894delins

c.2680_2681delinsTA

4 papers

NM_000038.6

p.E893K

c.2677G>A

19 papers

NM_000038.6

p.E893*

c.2677G>T

2 papers

NM_000038.6

p.V894A

c.2681T>C

3 papers

NM_000038.6

p.E893_V894del2

c.2677_2681del6

7 papers

NM_000038.6

p.S895*

c.2684C>A

7 papers

NM_000038.6

p.S895*

c.2684C>G

2 papers

NM_000038.6

p.S895L

c.2684C>T

1 paper

NM_000038.6

p.E892K

c.2674G>A