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.G471insFs

c.1412dupG

Surrounding Variants

3 papers

NM_000038.6

p.G470Splc

c.1409-2A>C

6 papers

NM_000038.6

p.G470Splc

c.1409-2A>G

7 papers

NM_000038.6

p.G471delFs

c.1412delG

10 papers

NM_000038.6

p.G470Splc

c.1409-1G>A

3 papers

NM_000038.6

p.G470Splc

c.1409-3T>G

2 papers

NM_000038.6

p.G470_Q473delFs

c.1409_1419del11

1 paper

NM_000038.6

p.G470A

c.1409G>C

2 papers

NM_000038.6

p.G470fs

c.1408_1409fs

6 papers

NM_000038.6

p.G470Splc

c.1409-5A>G

1 paper

NM_000038.6

p.G470G

c.1410G>T

3 papers

NM_000038.6

p.G470Splc

c.1409-6A>G

2 papers

NM_000038.6

p.G471R

c.1411G>A